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Research Publications

Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation. Labrosse R, Boufaied I, Bourdin B, Gona S, Randolph HE, Logan BR, Bourbonnais S, Berthe C, Chan W, Buckley RH, Parrott RE, Cuvelier GDE, Kapoor N, Chandra S, Dávila Saldaña BJ, Eissa H, Goldman FD, Heimall J, O'Reilly R, Chaudhury S, Kolb EA, Shenoy S, Griffith LM, Pulsipher M, Kohn DB, Notarangelo LD, Pai SY, Cowan MJ, Dvorak CC, Haddad É, Puck JM, Barreiro LB, Decaluwe H. J Allergy Clin Immunol. 2023 Jan;151(1):260-271. doi: 10.1016/j.jaci.2022.08.004. Epub 2022 Aug 17.

Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD. Leiding JW, Arnold DE, Parikh S, Logan B, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi K, Chellapandian D, Si Lim SJ, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs LM, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie LA, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah AJ, Gillio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey MJ, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM. Blood. 2023 Dec 14;142(24):2105-2118. doi: 10.1182/blood.2022019586. PMID: 37562003

Chronic granulomatous disease (CGD) is a type of primary immunodeficiency characterized by life-threatening infections and inflammation. Hematopoietic cell transplantation (HCT) is the definitive treatment for CGD. However, questions remain about patient selection and how active disease impacts transplant outcomes.

In this study, researchers investigated outcomes of allogeneic (donor) HCT in patients with CGD. The team performed an analysis of 391 participants treated either with or without HCT, following outcomes over several years.

Results show that HCT quickly and durably resolves CGD symptoms, lowers the burden of the disease, and has excellent survival rates. Patients with active inflammation or infection are candidates for HCT. To avoid complications from the development of additional medical conditions, authors note that HCT should be considered early in patients with CGD.

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kuśnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B. Blood. 2023 Feb 16;141(7):713-724. doi: 10.1182/blood.2022017667.

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD.. Lancet. 2023 Jul 8;402(10396):129-140. doi: 10.1016/S0140-6736(23)00731-6. Epub 2023 Jun 20. PMID: 37352885

Severe combined immunodeficiency (SCID) is a severe form of primary immune deficiency characterized by extreme weakness or absence of immune system function. SCID is fatal, unless durable adaptive immunity is established—most commonly through allogeneic hematopoietic cell transplantation (HCT).

In this study, researchers from the Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades. The team focused on the effects of population-based newborn screening for SCID, analyzing transplantation-related data from children with SCID treated at 34 PIDTC sites.

Results show that population-based newborn screening has helped to identify infants with SCID early in life, increasing the likelihood of prompt HCT prior to the development of serious infections. Authors state that public health programs worldwide can benefit from this demonstration of the value of newborn screening for SCID.

A Spot of Good News: Israeli Experience With SCID Newborn Screening. Puck JM. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2732-2733. doi: 10.1016/j.jaip.2022.08.014.

Distinguishing immune activation and inflammatory signatures of multisystem inflammatory syndrome in children (MIS-C) versus hemophagocytic lymphohistiocytosis (HLH). Kumar D, Rostad CA, Jaggi P, Villacis Nunez DS, Prince C, Lu A, Hussaini L, Nguyen TH, Malik S, Ponder LA, Shenoy SPV, Anderson EJ, Briones M, Sanz I, Prahalad S, Chandrakasan S. J Allergy Clin Immunol. 2022 May;149(5):1592-1606.e16. doi: 10.1016/j.jaci.2022.02.028. Epub 2022 Mar 15. PMID: 35304157; PMCID: PMC8923010.

Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy. Arnold DE, Chellapandian D, Parikh S, Mallhi K, Marsh RA, Heimall JR, Grossman D, Chitty-Lopez M, Murguia-Favela L, Gennery AR, Boulad F, Arbuckle E, Cowan MJ, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson T, Kang EM, Malech HL, Leiding JW. J Clin Immunol. 2022 Jul;42(5):1026-1035. doi: 10.1007/s10875-022-01261-1. Epub 2022 Apr 21. PMID: 35445907; PMCID: PMC9022412.

HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh. Chandrakasan S, Chandra S, Prince C, Kobrynski LJ, Lucas L, Patel K, Walter J, Buckley RH, Meisel R, Ghosh S, Parikh SH. Blood Adv. 2022 Jun 28;6(12):3751-3755. doi: 10.1182/bloodadvances.2021006905. PMID: 35443026.

PIDTC: HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh CD40 ligand (CD40L) deficiency is a rare X-linked immunodeficiency disorder that leads to recurrent bacterial infections. Not much is known about the immune status of CD40L-deficient carriers, or possible outcomes of hematopoietic stem cell transplantation (HSCT) using these carriers as donors for CD40L-deficient patients. In this study, researchers evaluated the immune profiles of 7 carriers—including 4 who acted as HSCT donors for family members with CD40L deficiency—and characterized their HSCT outcomes. Results show that most carriers with CD40L deficiency have a normal immune profile with differential high CD40L expression in circulating T follicular helper (cTfh) cells, which are critical for immune response. The team also reported excellent long-term immune reconstitution in CD40L-deficient patients after HSCT using carrier donors. Authors state that HSCT using X-linked carriers seems to be safe and results in excellent outcomes. Authors also note that this decision should be individualized and driven by the biology of the disease. Note: First author Shanmuganathan Chandrakasan, MD, received the 2017 PIDTC Fellowship Award.

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation. Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, Orben F, Ragotte RJ, Saferali A, Mostafavi S, Dinh L, Dai D, Weinacht KG, Dobbs K, Ott de Bruin L, Sharma M, Tsai K, Priatel JJ, Schreiber RA, Rozmus J, Hosking MC, Shopsowitz KE, McKinnon ML, Vercauteren S, Seear M, Notarangelo LD, Lynn FC, Berman JN, Turvey SE. JCI Insight. 2022 Dec 22;7(24):e150849. doi: 10.1172/jci.insight.150849. PMID: 36546480; PMCID: PMC9869972.

Primary atopic disorders are a group of rare inherited conditions that cause severe allergic disease. Each of these disorders is monogenic—controlled by a single gene—and causes its own unique condition. Studying primary atopic disorders teaches us about the genes and biology underlying allergic disease. We can then apply these lessons learned to identify better treatments for both primary atopic disorders and common allergic conditions. 

In this study, researchers explored a germline gain-of-function variant in the JAK1 gene, which is a cause of severe atopy (the genetic predisposition to developing allergic diseases) and eosinophilia (an unusually high number of a type of white blood cell called eosinophils). To investigate how enhanced JAK1 signaling promotes allergic inflammation, the team performed RNA sequencing of human whole blood, induced pluripotent stem cells, and zebrafish carrying the JAK1 gain-of-function variant.

Results reveal that the JAK1 gain-of-function variant causes dysregulated myelopoiesis (production of blood cells in bone marrow) and severe allergic inflammation. For two pediatric patients carrying the variant, researchers found that long-term treatment with the drug ruxolitinib remarkably improved their growth, eosinophilia, and clinical features of allergic inflammation. Authors note that this study highlights the role of JAK1 signaling in atopic immune dysregulation, as well as the clinical impact of medications inhibiting JAK1 and JAK2 in treating eosinophilic and allergic disease. 

Lentiviral Gene Therapy for Artemis-Deficient SCID. Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M, Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L, Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK, Petrovic A, Currier R, Hilton JF, Punwani D, Dvorak CC, Malech HL, McIvor RS, Puck JM. N Engl J Med. 2022 Dec 22;387(25):2344-2355. doi: 10.1056/NEJMoa2206575. PMID: 36546626.

Artemis-deficient severe combined immunodeficiency (ART-SCID) is a rare form of primary immune deficiency caused by mutations in the DCLRE1C gene. Allogeneic hematopoietic-cell transplantation, the standard treatment for patients with SCID, can effectively treat other forms of SCID. However, ART-SCID does not respond well to this therapy, highlighting the need for alternative treatments. In this study, researchers evaluated the effects of transfusing lentiviral gene-corrected autologous CD34+ bone marrow cells in 10 infants with newly diagnosed ART-SCID. The team followed these patients for a median of 31.2 months. Findings showed that infusion of these bone marrow cells—after conditioning with a low dose of the chemotherapy drug busulfan—resulted in genetically corrected and functional T and B cells. Authors state that larger studies of longer duration are needed to further assess the safety and efficacy of this approach.

Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC. Cuvelier GDE, Logan BR, Prockop S, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield M, Ayoub P, Moore TB, Dorsey M, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs L, Petrovic A, Chellapandian D, Heimall J, Shyr D, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gilio AP, Madden LM, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah A, Vander Lugt MT, Thakar MS, Parrott RE, Martinez CA, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Blood. 2022 Jun 7:blood.2022016196. doi: 10.1182/blood.2022016196. Epub ahead of print. PMID: 35671392.

Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution. Delmonte OM, Castagnoli R, Yu J, Dvorak CC, Cowan MJ, Dávila Saldaña BJ, De Ravin SS, Mamcarz E, Chang CK, Daley SR, Griffith LM, Notarangelo LD, Puck JM. J Allergy Clin Immunol. 2022 Mar;149(3):1113-1119. doi: 10.1016/j.jaci.2021.07.029. Epub 2021 Aug 9. PMID: 34384841; PMCID: PMC9132846.

Severe combined immunodeficiency (SCID) is a form of primary immune deficiency characterized by impaired T-cell development. Following hematopoietic cell transplantation (HCT) for SCID, development of a diverse T-cell receptor β (TRB) repertoire is associated with immune recovery. In this study, researchers investigated whether longitudinal analysis of the TRB repertoire would accurately describe T-cell receptor diversity and composition following HCT for SCID. Using high-throughput sequencing, the team studied the TRB repertoire in 27 infants with SCID at 3, 6, and 12 months and yearly posttreatment(s). Results showed that TRB repertoire after HCT for SCID provides a quantitative and qualitative measure of diversity of T-cell reconstitution. Authors note that this analysis can help identify patients who may require a second intervention.

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency. Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M. J Allergy Clin Immunol. 2022 Apr;149(4):1428-1436. doi: 10.1016/j.jaci.2021.08.026. Epub 2021 Sep 16.

T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome. Kumar D, Prince C, Bennett CM, Briones M, Lucas L, Russell A, Patel K, Chonat S, Graciaa S, Edington H, White MH, Kobrynski L, Abdalgani M, Parikh S, Chandra S, Bleesing J, Marsh R, Park S, Waller EK, Prahalad S, Chandrakasan S. Blood. 2022 Jan 20;139(3):369-383. doi: 10.1182/blood.2021012924.

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. J Allergy Clin Immunol. 2022 Nov 28:S0091-6749(22)01479-8. doi: 10.1016/j.jaci.2022.10.022. Epub ahead of print. PMID: 36456361.

Severe combined immunodeficiency (SCID) is a severe form of primary immune deficiency characterized by extreme weakness or absence of immune system function, manifesting at birth. SCID results from abnormalities in responses of both T cells and B cells, which are types of white blood cells needed for immune system function. In 2014, the Primary Immune Deficiency Treatment Consortium (PIDTC) published criteria used to qualify patients for enrollment in their prospective and retrospective studies of SCID. In this article, researchers update the criteria, incorporating contemporary diagnostic approaches. These include increased availability of gene sequencing, as well as widespread population-based newborn screening for SCID. This article proposes that these criteria be used to establish a diagnosis of SCID in 2022. Authors state that the new definitions allow for more precise categorization of patients with SCID and atypical or leaky SCID. However, the definitions do not imply a preferred treatment strategy.

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. J Allergy Clin Immunol. 2022 Nov 28:S0091-6749(22)01478-6. doi: 10.1016/j.jaci.2022.10.021. Epub ahead of print. PMID: 36456360.

In 2014, the Primary Immune Deficiency Treatment Consortium (PIDTC) published criteria developed for the diagnosis and classification of severe combined immunodeficiency (SCID) patients enrolling in their protocols. Since then, newborn screening for SCID has become increasingly common, as well as more rapid and less costly genetic sequencing. In light of these advances, the PIDTC updated their definitions in 2022. In this study, researchers compared the performance of the original versus the updated definitions. The team analyzed 379 patients who were proposed for enrollment in a PIDTC prospective protocol that follows SCID patients longitudinally, focusing on the ability to distinguish patients with various subtypes of SCID. Results showed that the 2022 definitions described SCID and its subtypes more precisely than the 2014 definitions. Authors state that these updates can facilitate improved analyses of SCID characteristics and outcomes.

Comparative Survival Analysis of Immunomodulatory Therapy for Coronavirus Disease 2019 Cytokine Storm. Narain S, Stefanov DG, Chau AS, Weber AG, Marder G, Kaplan B, Malhotra P, Bloom O, Liu A, Lesser ML, Hajizadeh N; Northwell COVID-19 Research Consortium. Chest. 2021 Mar;159(3):933-948. doi: 10.1016/j.chest.2020.09.275. Epub 2020 Oct 17.

Establishing Newborn Screening for SCID in the USA; Experience in California. Puck JM, Gennery AR. Int J Neonatal Screen. 2021 Oct 31;7(4):72. doi: 10.3390/ijns7040072. PMID: 34842619; PMCID: PMC8628983.

Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID). Smith H, Scalchunes C, Cowan MJ, Puck J, Heimall J. Clin Immunol. 2021 Aug;229:108778. doi: 10.1016/j.clim.2021.108778. Epub 2021 Jun 16. PMID: 34144198; PMCID: PMC8559521.

Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID are treated with hematopoietic cell transplantation (HCT, also called bone marrow transplantation or stem cell transplantation) or gene therapy (an experimental form of treatment that uses transfer of genetic material into the cell of a patient to treat or stop disease). To test parent and patient expectations and experience with these treatments, researchers distributed 151 surveys to families of patients with SCID treated with HCT or gene therapy. They found that 37% of respondents expected the therapy would lead to a “cure” and 43% expected it would last a lifetime. Researchers found that varying interpretations of the word “cure” led to misunderstandings regarding the need for continued medical evaluations and therapies. They concluded that clear communication about the importance of lifelong follow-up, regardless of treatment outcome, is needed to optimize health and quality of life.

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier GDE, Dalal J, DeFelice ML, DeSantes KB, Forbes LR, Gillio A, Goldman F, Joshi AY, Kapoor N, Knutsen AP, Kobrynski L, Lieberman JA, Leiding JW, Oshrine B, Patel KP, Prockop S, Quigg TC, Quinones R, Schultz KR, Seroogy C, Shyr D, Siegel S, Smith AR, Torgerson TR, Vander Lugt MT, Yu LC, Cowan MJ, Buckley RH, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Logan B, Notarangelo LD, Pai SY, Puck J, Pulsipher MA, Heimall J. J Clin Immunol. 2021 Jan;41(1):38-50. doi: 10.1007/s10875-020-00865-9. Epub 2020 Oct 2.

SCID newborn screening: What we've learned. Currier R, Puck JM. J Allergy Clin Immunol. 2021 Feb;147(2):417-426. doi: 10.1016/j.jaci.2020.10.020.

Successful SCID gene therapy in infant with disseminated BCG. Maron G, Kaste S, Bahrami A, Neel M, Malech HL, Puck JM, Cowan MJ, Gottschalk S, Mamcarz E. J Allergy Clin Immunol Pract. 2021 Feb;9(2):993-995.e1. doi: 10.1016/j.jaip.2020.09.004. Epub 2020 Sep 16.

T Cell-Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis (HLH) Occurs in Non-Asians and Is Associated with a T Cell Activation State that Is Comparable to Primary HLH. Shamriz O, Kumar D, Shim J, Briones M, Quarmyne MO, Chonat S, Lucas L, Edington H, White MH, Mahajan A, Park S, Chandrakasan S. J Clin Immunol. 2021 Oct;41(7):1582-1596. doi: 10.1007/s10875-021-01073-9. Epub 2021 Jun 26.

The Longitudinal Immune Response to Coronavirus Disease 2019: Chasing the Cytokine Storm. Chau AS, Weber AG, Maria NI, Narain S, Liu A, Hajizadeh N, Malhotra P, Bloom O, Marder G, Kaplan B. Arthritis Rheumatol. 2021 Jan;73(1):23-35. doi: 10.1002/art.41526. Epub 2020 Dec 1.

Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients. Forlanini F, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Transpl Infect Dis. 2021 Apr;23(2):e13504. doi: 10.1111/tid.13504. Epub 2020 Nov 29.

When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review. Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA. J Clin Immunol. 2021 Feb;41(2):294-302. doi: 10.1007/s10875-020-00931-2. Epub 2021 Jan 7. PMID: 33411155; PMCID: PMC8179373.

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia. Bosticardo M, Pala F, Calzoni E, Delmonte OM, Dobbs K, Gardner CL, Sacchetti N, Kawai T, Garabedian EK, Draper D, Bergerson JRE, DeRavin SS, Freeman AF, Güngör T, Hartog N, Holland SM, Kohn DB, Malech HL, Markert ML, Weinacht KG, Villa A, Seet CS, Montel-Hagen A, Crooks GM, Notarangelo LD. Blood Adv. 2020 Jun 23;4(12):2611-2616. doi: 10.1182/bloodadvances.2020001730.

Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency. Bifsha P, Leiding JW, Pai SY, Colamartino ABL, Hartog N, Church JA, Oshrine BR, Puck JM, Markert ML, Haddad E. Blood Adv. 2020 Jun 23;4(12):2606-2610. doi: 10.1182/bloodadvances.2020001736.

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. Blood. 2020 Jun 4;135(23):2094-2105. doi: 10.1182/blood.2019002939.

We are excited to share the results of our paper, “Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report” that was recently published in the medical journal, Blood in June 2020. PIDTC 6904 is a clinical research study of the outcomes of patients with Wiskott-Aldrich syndrome who have undergone transplant at PIDTC centers. The study was open at over 42 PIDTC centers and has enrolled over 300 patients across North America! Patients with Wiskott-Aldrich syndrome (WAS) are at increased risk for lifethreatening infections, bleeding complications, and autoimmune problems due to their disease. Transplant is the primary curative approach, with the goal of correcting the underlying immune and platelet problems. In our first paper, we did a retrospective study of 129 patients with WAS who had undergone transplantation at PIDTC centers from 2005-2015. Importantly, we found excellent survival (>90%) following transplant regardless of what type of donor (sibling or unrelated donor) or hematopoietic cell source (bone marrow, peripheral blood, or cord blood) was used. Age at transplant remained a key factor with better survival in patients who were younger than age 5 years at the time of transplant versus those who were older. This finding highlights the importance of performing the transplant early in the course of the disease before the patient develops complications which can make it more difficult to do the transplant safely. We also looked at how the type of conditioning the patient received (full intensity versus reduced intensity) affects transplant outcomes. We did not find a difference in survival; however, we did find a difference in engraftment (how well the transplant took) with higher donor cell percentage in patients who received Busulfan-based conditioning regimens versus other reduced intensity regimens. Higher donor cell percentage in turn was needed to correct the platelet count. Which conditioning regimen is best remains an unanswered question that we are hoping to study further in our next paper, which includes more retrospective cases and data from patients who enrolled in our prospective natural history study. Additional studies are also needed that look at the long-term outcomes of patients who have undergone transplant. This study highlights the importance of centers working together to advance patient care, particularly for patients with rare diseases. The PIDTC is a consortium of 43 centers in North America whose shared goal is to improve the outcomes of patients with rare, life threatening, inherited disorders of the immune system ISSUE 12 |WINTER 2020| PAGE 10 including WAS, severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), and primary immune regulatory disorders. We would like to thank all the patients and families who made this work possible!

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA, Prockop SE, Chandrakasan S, Kapoor N, Buckley RH, Parikh S, Chellapandian D, Oshrine BR, Bednarski JJ, Cooper MA, Shenoy S, Davila Saldana BJ, Forbes LR, Martinez C, Haddad E, Shyr DC, Chen K, Sullivan KE, Heimall J, Wright N, Bhatia M, Cuvelier GDE, Goldman FD, Meyts I, Miller HK, Seidel MG, Vander Lugt MT, Bacchetta R, Weinacht KG, Andolina JR, Caywood E, Chong H, de la Morena MT, Aquino VM, Shereck E, Walter JE, Dorsey MJ, Seroogy CM, Griffith LM, Kohn DB, Puck JM, Pulsipher MA, Torgerson TR. Front Immunol. 2020 Feb 21;11:239. doi: 10.3389/fimmu.2020.00239. eCollection 2020.

Primary Immune Regulatory Disorders (PIRD) are a new group of conditions where the immune system is not responding and regulating the immune response appropriately. These diseases can affect multiple organs and are often cared for by many different specialists. Thus, little is known about the natural history of this group of diseases and the ideal treatment for PIRD. To help us better understand this group of disorders, we conducted a survey among 30 centers in the PIDTC and 3 centers in Europe to look at the outcome of patients that have been transplanted for PIRD. We collected data on 226 patients who had received a transplant for a PIRD condition. Roughly 75% of patients had a genetic diagnosis and a quarter did not. Most patients developed symptoms within a year of age. Almost all organ systems were affected, and many patients had multiple affected organs. The most common problems included gastrointestinal issues, blood count issues (autoimmune cytopenias), and rashes. The main reason for transplant was autoimmune problems (41%), and the next most common reason was infections (26%). Roughly a quarter of the patients had multiple reasons for transplant. Nearly all of the patients were transplanted before 18 years of age, and approximately a quarter of the patients were transplanted before a year of age. More than half of patients had resolution of their symptoms, and the overall 5-year survival for transplanted PIRD patients was 67%. This is the first study to look at transplant for PIRD and highlights a need to improve our understanding of this condition and what therapies are ideal for treating this group. This survey served as the basis for the development of the 6906 protocol which will focus on studying the natural history of PIRD to improve survival for patients with this condition.

Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. Takushi SE, Paik NY, Fedanov A, Prince C, Doering CB, Spencer HT, Chandrakasan S. Hum Gene Ther. 2020 Jun;31(11-12):626-638. doi: 10.1089/hum.2019.329.

Multiplexed Functional Assessment of Genetic Variants in CARD11. Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Am J Hum Genet. 2020 Nov 12:S0002-9297(20)30373-6. doi: 10.1016/j.ajhg.2020.10.015. Epub ahead of print. PMID: 33202260. PMCID: PMC7820631.

There has been a rapid increase in the availability and utilization of genetic testing in medicine, but the interpretation of these genetic results is often lagging. Patients often get reports labeling variants of “uncertain significance”, which should not be used for medical decision making. This hinders precision medicine. There are many pieces of data that clinicians and geneticists use to interpret variants as either benign or disease-causing including functional testing. Often this time-consuming process follows variant identification and delays treatment. In this study, we focused on a novel approach to simultaneously screen the functional effect of a large number of variants in the gene CARD11, an adaptor protein that expresses blocking or gain-offunction variants associated with distinct immunodeficiencies. We used genome editing to make a population of cells with all possible genetic changes at the same time to functionally screen them to provide a database to provide up front predictions. This information can now be utilized together with family history, clinical symptoms and other laboratory testing to aid in diagnosis. We generated functional scores for 2,542 coding and 38 noncoding variants of CARD11 and applied our predictions to new patients with novel mutations and compared to traditional methods. The classification of reported clinical variants was sensitive (94.6%) and specific (88.9%), which rendered the data immediately useful for interpretation of seven coding and splicing variants implicated in immunodeficiency ISSUE 12 |WINTER 2020| PAGE 6 found in our clinic. This approach is generalizable for variant interpretation in many other clinically actionable genes, in any relevant cell type.

Nebulized in-line endotracheal dornase alfa and albuterol administered to mechanically ventilated COVID-19 patients: A case series. Weber AG, Chau AS, Egeblad M, Barnes BJ, Janowitz T. medRxiv. 2020 May 15:2020.05.13.20087734. doi: 10.1101/2020.05.13.20087734. Preprint.

Primary immune regulatory disorders: a growing universe of immune dysregulation. Chan AY, Torgerson TR. Curr Opin Allergy Clin Immunol. 2020 Dec;20(6):582-590. doi: 10.1097/ACI.0000000000000689.

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, Dávila Saldaña BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM; submitted on behalf of the Primary Immune Deficiency Treatment Consortium. J Clin Immunol. 2019 Oct;39(7):653-667. doi: 10.1007/s10875-019-00659-8. Epub 2019 Aug 2.

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E. J Allergy Clin Immunol. 2019 Mar;143(3):852-863. doi: 10.1016/j.jaci.2018.08.024. Epub 2018 Sep 5.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP. J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1. Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP. N Engl J Med. 2019 Apr 18;380(16):1525-1534. doi: 10.1056/NEJMoa1815408.

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency. Dvorak CC, Long-Boyle J, Dara J, Melton A, Shimano KA, Huang JN, Puck JM, Dorsey MJ, Facchino J, Chang CK, Cowan MJ. Biol Blood Marrow Transplant. 2019 Jul;25(7):1355-1362. doi: 10.1016/j.bbmt.2019.03.008. Epub 2019 Mar 12.

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Pediatrics. 2019 Feb;143(2):e20182300. doi: 10.1542/peds.2018-2300.

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Dorsey MJ, Puck JM. Immunol Allergy Clin North Am. 2019 Feb;39(1):1-11. doi: 10.1016/j.iac.2018.08.002. Epub 2018 Nov 1.

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Puck JM. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729.

Psychosocial services for primary immunodeficiency disorder families during hematopoietic cell transplantation: A descriptive study. Mangurian C, Scalchunes C, Yoo J, Logan B, Henderson T, Iyengar S, Smith H, Cowan MJ. Palliat Support Care. 2019 Aug;17(4):409-414. doi: 10.1017/S1478951518000603.

Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia: a Study of the Primary Immune Deficiency Consortium (PIDTC), Immune Deficiency Foundation, and the Wiskott-Aldrich Foundation. Shah AJ, Sokolic R, Logan B, Yin Z, Iyengar S, Scalchunes C, Mangurian C, Albert M, Cowan MJ. J Clin Immunol. 2019 Nov;39(8):786-794. doi: 10.1007/s10875-019-00689-2. Epub 2019 Oct 16.

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM. J Allergy Clin Immunol. 2019 Dec;144(6):1674-1683. doi: 10.1016/j.jaci.2019.05.038. Epub 2019 Jun 18.

Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders. Yoo J, Halley MC, Lown EA, Yank V, Ort K, Cowan MJ, Dorsey MJ, Smith H, Iyengar S, Scalchunes C, Mangurian C. J Allergy Clin Immunol. 2019 Jun;143(6):2271-2278. doi: 10.1016/j.jaci.2018.10.017. Epub 2018 Oct 25.

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, Kohn DB, Pai SY, Notarangelo L, Shearer W, Prockop S, Kapoor N, Heimall J, Chaudhury S, Shyr D, Chandra S, Cuvelier G, Moore T, Shenoy S, Goldman F, Smith AR, Sunkersett G, Vander Lugt M, Caywood E, Quigg T, Torgerson T, Chandrakasan S, Craddock J, Dávila Saldaña BJ, Gillio A, Shereck E, Aquino V, DeSantes K, Knutsen A, Thakar M, Yu L, Puck JM. J Allergy Clin Immunol. 2019 Jan;143(1):405-407. doi: 10.1016/j.jaci.2018.08.027. Epub 2018 Sep 5.

Advances and highlights in primary immunodeficiencies in 2017. Chinen J, Cowan MJ. J Allergy Clin Immunol. 2018 Oct;142(4):1041-1051. doi: 10.1016/j.jaci.2018.08.016. Epub 2018 Aug 29.

Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Blood Adv. 2018 Aug 14;2(15):1828-1832. doi: 10.1182/bloodadvances.2018016113.

B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck JM, Cowan MJ, Griffith LM, Haddad E, O'Reilly RJ, Notarangelo LD, Pai SY. Blood. 2018 Jun 28;131(26):2967-2977. doi: 10.1182/blood-2017-10-809822. Epub 2018 May 4.

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. Puck JM. Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S7-S9. doi: 10.1002/hast.875.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT). J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

Metagenomic Sequencing Detects Respiratory Pathogens in Hematopoietic Cellular Transplant Patients. Langelier C, Zinter MS, Kalantar K, Yanik GA, Christenson S, O'Donovan B, White C, Wilson M, Sapru A, Dvorak CC, Miller S, Chiu CY, DeRisi JL. Am J Respir Crit Care Med. 2018 Feb 15;197(4):524-528. doi: 10.1164/rccm.201706-1097LE.

Outcome of domino hematopoietic stem cell transplantation in human subjects: An international case series. Belderbos ME, Gennery AR, Dvorak CC, Blok HJ, Eikema DJ, Silva JMF, Veys P, Neven B, Buckley R, Cole T, Cowan MJ, Goebel WS, Hoenig M, Kuo CY, Stiehm ER, Wynn R, Bierings M; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. J Allergy Clin Immunol. 2018 Nov;142(5):1628-1631.e4. doi: 10.1016/j.jaci.2018.06.030. Epub 2018 Jul 5.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.

SCID genotype and 6-month post-transplant CD4 count predict survival and immune recovery: a PIDTC retrospective study. Haddad E, Logan BR, Griffith LM, et al. Blood. Aug 2018. PMID: 30154114. Pending PMCID.

Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome. Kuo CY, Long JD, Campo-Fernandez B, de Oliveira S, Cooper AR, Romero Z, Hoban MD, Joglekar AV, Lill GR, Kaufman ML, Fitz-Gibbon S, Wang X, Hollis RP, Kohn DB. Cell Rep. 2018 May 29;23(9):2606-2616. doi: 10.1016/j.celrep.2018.04.103.

Very early-onset inflammatory bowel disease: an integrated approach. Sullivan KE, Conrad M, Kelsen JR. Curr Opin Allergy Clin Immunol. 2018 Dec;18(6):459-469. doi: 10.1097/ACI.0000000000000484.

Abnormalities of T-cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity. Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD. J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31.

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ. Biol Blood Marrow Transplant. 2017 Mar;23(3):379-387. doi: 10.1016/j.bbmt.2016.12.619. Epub 2017 Jan 6.

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE. J Allergy Clin Immunol. 2017 Feb;139(2):690-692.e3. doi: 10.1016/j.jaci.2016.07.027. Epub 2016 Sep 5.

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Blood. 2017 Dec 21;130(25):2718-2727. doi: 10.1182/blood-2017-05-781849. Epub 2017 Oct 11.

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency. Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA, Karlen AD, Khan S, Cornetta K, Rothe M, Schambach A, Kohn DB, Malech HL, McIvor RS, Puck JM, Cowan MJ. Hum Gene Ther. 2017 Jan;28(1):112-124. doi: 10.1089/hum.2016.064. Epub 2016 Sep 7.

Long term outcomes of severe combined immunodeficiency: therapy implications. Heimall J, Cowan MJ. Expert Rev Clin Immunol. 2017 Nov;13(11):1029-1040. doi: 10.1080/1744666X.2017.1381558. Epub 2017 Sep 23.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM. J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30.

Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. Blood Adv. 2017 Sep 5;1(20):1694-1698. doi: 10.1182/bloodadvances.2017010835. eCollection 2017 Sep 12.

Newborn screening for severe combined immunodeficiency: a primer for clinicians. Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561.

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, Neven B, Slatter M, Roderick S, Baker KS, Dietz AC, Duncan C, Griffith LM, Notarangelo L, Pulsipher MA, Cowan MJ. Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-1240. doi: 10.1016/j.bbmt.2017.04.026. Epub 2017 May 4.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies. Dietz AC, Duncan CN, Alter BP, Bresters D, Cowan MJ, Notarangelo L, Rosenberg PS, Shenoy S, Skinner R, Walters MC, Wagner J, Baker KS, Pulsipher MA. Biol Blood Marrow Transplant. 2017 Jan;23(1):24-29. doi: 10.1016/j.bbmt.2016.10.004. Epub 2016 Oct 11.

Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. Wahlstrom J, Patel K, Eckhert E, Kong D, Horn B, Cowan MJ, Dvorak CC. J Allergy Clin Immunol. 2017 Feb;139(2):628-633.e10. doi: 10.1016/j.jaci.2016.04.049. Epub 2016 Jun 16.

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM. J Allergy Clin Immunol. 2017 Mar;139(3):733-742. doi: 10.1016/j.jaci.2017.01.005.

Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID. Dvorak CC, Patel K, Puck JM, Wahlstrom J, Dorsey MJ, Adams R, Facchino J, Cowan MJ. Bone Marrow Transplant. 2017 Jul;52(7):1036-1038. doi: 10.1038/bmt.2017.74. Epub 2017 Apr 24.

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM. J Exp Med. 2016 Feb 8;213(2):155-65. doi: 10.1084/jem.20150888. Epub 2016 Jan 18.

Advances in clinical immunology in 2015. Chinen J, Notarangelo LD, Shearer WT. J Allergy Clin Immunol. 2016 Dec;138(6):1531-1540. doi: 10.1016/j.jaci.2016.10.005.

Characterization of T and B cell repertoire diversity in patients with RAG deficiency. Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD. Sci Immunol. 2016 Dec 16;1(6):eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16.

Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. Burbank AJ, Shah SN, Montgomery M, Peden D, Tarrant TK, Weimer ET. Pediatr Allergy Immunol. 2016 Feb;27(1):96-8. doi: 10.1111/pai.12451. Epub 2015 Oct 12.

Cutting Edge: BAFF Overexpression Reduces Atherosclerosis via TACI-Dependent B Cell Activation. Jackson SW, Scharping NE, Jacobs HM, Wang S, Chait A, Rawlings DJ. J Immunol. 2016 Dec 15;197(12):4529-4534. doi: 10.4049/jimmunol.1601198. Epub 2016 Nov 11.

Human mesenchymal stromal cell-secreted lactate induces M2-macrophage differentiation by metabolic reprogramming. Selleri S, Bifsha P, Civini S, Pacelli C, Dieng MM, Lemieux W, Jin P, Bazin R, Patey N, Marincola FM, Moldovan F, Zaouter C, Trudeau LE, Benabdhalla B, Louis I, Beauséjour C, Stroncek D, Le Deist F, Haddad E. Oncotarget. 2016 May 24;7(21):30193-210. doi: 10.18632/oncotarget.8623.

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. De Ravin SS, Wu X, Moir S, Anaya-O'Brien S, Kwatemaa N, Littel P, Theobald N, Choi U, Su L, Marquesen M, Hilligoss D, Lee J, Buckner CM, Zarember KA, O'Connor G, McVicar D, Kuhns D, Throm RE, Zhou S, Notarangelo LD, Hanson IC, Cowan MJ, Kang E, Hadigan C, Meagher M, Gray JT, Sorrentino BP, Malech HL, Kardava L. Sci Transl Med. 2016 Apr 20;8(335):335ra57. doi: 10.1126/scitranslmed.aad8856.

Lung Disease in Primary Antibody Deficiencies. Schussler E, Beasley MB, Maglione PJ. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1039-1052. doi: 10.1016/j.jaip.2016.08.005.

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies. Brauer PM, Pessach IM, Clarke E, Rowe JH, Ott de Bruin L, Lee YN, Dominguez-Brauer C, Comeau AM, Awong G, Felgentreff K, Zhang YH, Bredemeyer A, Al-Herz W, Du L, Ververs F, Kennedy M, Giliani S, Keller G, Sleckman BP, Schatz DG, Bushman FD, Notarangelo LD, Zúñiga-Pflücker JC. Blood. 2016 Aug 11;128(6):783-93. doi: 10.1182/blood-2015-10-676304. Epub 2016 Jun 14.

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM. N Engl J Med. 2016 Dec 1;375(22):2165-2176. doi: 10.1056/NEJMoa1509164.

Primary Immune Deficiency Treatment Consortium (PIDTC) update. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E; workshop participants. J Allergy Clin Immunol. 2016 Aug;138(2):375-85. doi: 10.1016/j.jaci.2016.01.051. Epub 2016 Apr 22.

The Primary Immune Deficiency Treatment Consortium: how can it improve definitive therapy for PID?. Cowan MJ. Expert Rev Clin Immunol. 2016 Oct;12(10):1007-9. doi: 10.1080/1744666X.2016.1216317. Epub 2016 Jul 29.

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

Advances in basic and clinical immunology in 2014. Chinen J, Notarangelo LD, Shearer WT. J Allergy Clin Immunol. May 2015;135(5):1132-1141. PMID: 25956014. Pending PMCID.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12.

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM. J Clin Immunol. 2015 Feb;35(2):135-46. doi: 10.1007/s10875-014-0125-1. Epub 2015 Jan 28.

Coronin-1A: immune deficiency in humans and mice. Punwani D, Pelz B, Yu J, Arva NC, Schafernak K, Kondratowicz K, Makhija M, Puck JM. J Clin Immunol. 2015 Feb;35(2):100-7. doi: 10.1007/s10875-015-0130-z. Epub 2015 Feb 10.

HLA-DRB1454 and predictors of new-onset asthma in HIV-infected Thai children. Bunupuradah T, Hansudewechakul R, Kosalaraksa P, et al. Clin Immunol. Mar 2015;157(1):26-29. PMID: 25546395. Pending PMCID.

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency. Wahlstrom JT, Dvorak CC, Cowan MJ. Curr Pediatr Rep. 2015 Mar 1;3(1):1-10. doi: 10.1007/s40124-014-0071-7.

History and current status of newborn screening for severe combined immunodeficiency. Kwan A, Puck JM. Semin Perinatol. 2015 Apr;39(3):194-205. doi: 10.1053/j.semperi.2015.03.004. Epub 2015 Apr 30.

IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome. Niss O, Sholl A, Bleesing JJ, Hildeman DA. J Allergy Clin Immunol. 2015 Mar;135(3):762-70. doi: 10.1016/j.jaci.2014.07.020. Epub 2014 Aug 28.

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17.

Identification of resolvin D2 receptor mediating resolution of infections and organ protection. Chiang N, Dalli J, Colas RA, Serhan CN. J Exp Med. 2015 Jul 27;212(8):1203-17. doi: 10.1084/jem.20150225. Epub 2015 Jul 20.

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. Walter JE, Lo MS, Kis-Toth K, Tirosh I, Frugoni F, Lee YN, Csomos K, Chen K, Pillai S, Dunham J, Tsokos GC, Luning Prak ET, Notarangelo LD. J Allergy Clin Immunol. 2015 Jan;135(1):272-3. doi: 10.1016/j.jaci.2014.07.063. Epub 2014 Oct 11.

Improved outcomes on subcutaneous IgG in patients with humoral immunodeficiency and co-morbid bowel disease. Shah SN, Todoric K, Tarrant TK. Clin Case Rep Rev. 2015 Jul 28;1(7):151-152. doi: 10.15761/CCRR.1000149.

Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome. Zheng P, Noroski LM, Hanson IC, et al. J Allergy Clin Immunol. May 2015;135(5):1293-1302. PMID: 25748067, PMCID: PMC5540306 

New Insights Into Multicenter PICU Mortality Among Pediatric Hematopoietic Stem Cell Transplant Patients. Zinter MS, Dvorak CC, Spicer A, Cowan MJ, Sapru A. Crit Care Med. 2015 Sep;43(9):1986-94. doi: 10.1097/CCM.0000000000001085.

Population pharmacokinetics of busulfan in pediatric and young adult patients undergoing hematopoietic cell transplant: a model-based dosing algorithm for personalized therapy and implementation into routine clinical use. Long-Boyle JR, Savic R, Yan S, Bartelink I, Musick L, French D, Law J, Horn B, Cowan MJ, Dvorak CC. Ther Drug Monit. 2015 Apr;37(2):236-45. doi: 10.1097/FTD.0000000000000131.

Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?. Cowan MJ, Gennery AR. J Allergy Clin Immunol. 2015 Nov;136(5):1178-85. doi: 10.1016/j.jaci.2015.04.027. Epub 2015 Jun 6.

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F. J Exp Med. 2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6.

Successful newborn screening for SCID in the Navajo Nation. Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck JM. Clin Immunol. 2015 May;158(1):29-34. doi: 10.1016/j.clim.2015.02.015. Epub 2015 Mar 8.

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. J Allergy Clin Immunol. 2014 Dec;134(6):1375-1380. doi: 10.1016/j.jaci.2014.04.042. Epub 2014 Jul 2.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.

Advances in basic and clinical immunology in 2013. Chinen J, Notarangelo LD, Shearer WT. J Allergy Clin Immunol. 2014 Apr;133(4):967-76. doi: 10.1016/j.jaci.2014.01.026. Epub 2014 Feb 28.

Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25.

Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, Pulsipher MA, Davis JH, Güngör T, Gabriel M, Bleesing JH, Bunin N, Sedlacek P, Connelly JA, Crawford DF, Notarangelo LD, Pai SY, Hassid J, Veys P, Gennery AR, Cowan MJ. J Allergy Clin Immunol. 2014 Oct;134(4):935-943.e15. doi: 10.1016/j.jaci.2014.06.021. Epub 2014 Aug 7.

Control lymphocyte subsets: can one country's values serve for another's?. Mandala WL, Ananworanich J, Apornpong T, et al. J Allergy Clin Immunol. Sep 2014;134(3):759-761 e758. PMID: 25171870, PMCID: PMC4150016.

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ. J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.

Etoposide selectively ablates activated T cells to control the immunoregulatory disorder hemophagocytic lymphohistiocytosis. Johnson TS, Terrell CE, Millen SH, Katz JD, Hildeman DA, Jordan MB. J Immunol. 2014 Jan 1;192(1):84-91. doi: 10.4049/jimmunol.1302282. Epub 2013 Nov 20.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132.

Primary Immune Deficiency Treatment Consortium (PIDTC) report. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15.

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. Medical Advisory Committee of the Immune Deficiency Foundation, Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, Bonilla FA, Conley ME, Cunningham-Rundles C, Filipovich AH, Fuleihan R, Gelfand EW, Hernandez-Trujillo V, Holland SM, Hong R, Lederman HM, Malech HL, Miles S, Notarangelo LD, Ochs HD, Orange JS, Puck JM, Routes JM, Stiehm ER, Sullivan K, Torgerson T, Winkelstein J. J Allergy Clin Immunol. 2014 Apr;133(4):961-6. doi: 10.1016/j.jaci.2013.11.043. Epub 2014 Feb 28.

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ. Blood. 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432. Epub 2013 Oct 21.

Stem cell transplantation for primary immunodeficiency diseases: the North American experience. Pai SY, Cowan MJ. Curr Opin Allergy Clin Immunol. 2014 Dec;14(6):521-6. doi: 10.1097/ACI.0000000000000115.

Survey on retransplantation criteria for patients with severe combined immunodeficiency. Haddad E, Allakhverdi Z, Griffith LM, Cowan MJ, Notarangelo LD. J Allergy Clin Immunol. 2014 Feb;133(2):597-9. doi: 10.1016/j.jaci.2013.10.022. Epub 2013 Dec 10.

Transplantation outcomes for severe combined immunodeficiency, 2000-2009. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ. N Engl J Med. 2014 Jul 31;371(5):434-46. doi: 10.1056/NEJMoa1401177.

Advances in basic and clinical immunology in 2012. Chinen J, Notarangelo LD, Shearer WT. J Allergy Clin Immunol. Mar 2013;131(3):675-682. PMID: 23374612. Pending PMCID.

B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?. Haddad E, Leroy S, Buckley RH. J Allergy Clin Immunol. 2013 Apr;131(4):994-1000. doi: 10.1016/j.jaci.2013.01.047. Epub 2013 Mar 5.

Controversies in IgG replacement therapy in patients with antibody deficiency diseases. Gelfand EW, Ochs HD, Shearer WT. J Allergy Clin Immunol. Apr 2013;131(4):1001-1005. PMID: 23540617. Pending PMCID.

Cord-blood-derived mesenchymal stromal cells downmodulate CD4+ T-cell activation by inducing IL-10-producing Th1 cells. Selleri S, Dieng MM, Nicoletti S, Louis I, Beausejour C, Le Deist F, Haddad E. Stem Cells Dev. 2013 Apr 1;22(7):1063-75. doi: 10.1089/scd.2012.0315. Epub 2013 Jan 4.

Effect of weight and maturation on busulfan clearance in infants and small children undergoing hematopoietic cell transplantation. Savic RM, Cowan MJ, Dvorak CC, Pai SY, Pereira L, Bartelink IH, Boelens JJ, Bredius RG, Wynn RF, Cuvelier GD, Shaw PJ, Slatter MA, Long-Boyle J. Biol Blood Marrow Transplant. 2013 Nov;19(11):1608-14. doi: 10.1016/j.bbmt.2013.08.014. Epub 2013 Sep 9.

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity. Henderson LA, Frugoni F, Hopkins G, de Boer H, Pai SY, Lee YN, Walter JE, Hazen MM, Notarangelo LD. J Allergy Clin Immunol. 2013 Oct;132(4):969-71.e1-2. doi: 10.1016/j.jaci.2013.06.032. Epub 2013 Jul 24.

First reported case of Omenn syndrome in a patient with reticular dysgenesis. Henderson LA, Frugoni F, Hopkins G, Al-Herz W, Weinacht K, Comeau AM, Bonilla FA, Notarangelo LD, Pai SY. J Allergy Clin Immunol. 2013 Apr;131(4):1227-30, 1230.e1-3. doi: 10.1016/j.jaci.2012.07.045. Epub 2012 Sep 24.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY. J Allergy Clin Immunol. 2013 Apr;131(4):1136-45. doi: 10.1016/j.jaci.2012.12.667. Epub 2013 Feb 4.

Long-term outcome of non-ablative booster BMT in patients with SCID. Teigland CL, Parrott RE, Buckley RH. Bone Marrow Transplant. 2013 Aug;48(8):1050-5. doi: 10.1038/bmt.2013.6. Epub 2013 Feb 11.

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. J Allergy Clin Immunol. 2013 Jul;132(1):140-50. doi: 10.1016/j.jaci.2013.04.024.

Post-transplantation B cell function in different molecular types of SCID. Buckley RH, Win CM, Moser BK, Parrott RE, Sajaroff E, Sarzotti-Kelsoe M. J Clin Immunol. Jan 2013;33(1):96-110. PMID: 23001410, PMCID: PMC3549311.

The missing vital sign. Mangurian C, Cowan MJ. BMJ. 2013;347:f4163. PMID: 23833077, PMCID: PMC4688548.

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH. J Clin Immunol. 2013 Oct;33(7):1156-64. doi: 10.1007/s10875-013-9917-y. Epub 2013 Jul 2.

Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects. Horn B, Cowan MJ. J Allergy Clin Immunol. 2013 May;131(5):1306-11. doi: 10.1016/j.jaci.2013.03.014.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4.

Advances in basic and clinical immunology in 2011. Chinen J, Shearer WT. J Allergy Clin Immunol. Feb 2012;129(2):342-348. PMID: 22206779, PMCID: PMC3279946.

CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Roberts JL, Buckley RH, Luo B, et al. Proc Natl Acad Sci USA. Jun 26 2012;109(26):10456-10461. PMID: 22689986, PMCID: PMC3387083.

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Punwani D, Gonzalez-Espinosa D, Comeau AM, Dutra A, Pak E, Puck J. Mol Genet Metab. 2012 Nov;107(3):586-91. doi: 10.1016/j.ymgme.2012.09.018. Epub 2012 Sep 21.

Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease. Martinez CA, Shah S, Shearer WT, et al. J Allergy Clin Immunol. Jan 2012;129(1):176-183. PMID: 22078471. Pending PMCID.

FTY720 markedly increases alloengraftment but does not eliminate host anti-donor T cells that cause graft rejection on its withdrawal. Taylor PA, Kelly RM, Bade ND, Smith MJ, Stefanski HE, Blazar BR. Biol Blood Marrow Transplant. Sep 2012;18(9):1341-1352. PMID: 22728248, PMCID: PMC3520609.

HCT survival in ADA-SCID: what's the buzz?. Chan SK, Shearer WT. Blood. Oct 25 2012;120 (17):3392-3393. PMID: 23100302. Pending PMCID.

Increased risk of asthma and atopic dermatitis in perinatally HIV-infected children and adolescents. Siberry GK, Leister E, Jacobson DL, et al. Clin Immunol. Feb 2012;142(2):201-208. PMID: 22094294, PMCID: PMC3273595.

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. Puck JM. J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.

Lymphoma complicating primary immunodeficiency syndromes. Leechawengwongs E, Shearer WT. Curr Opin Hematol. Jul 2012;19(4):305-312. PMID: 22525579. Pending PMCID.

Ruling out HIV infection when testing for severe combined immunodeficiency and other T-cell deficiencies. Hanson IC, Shearer WT. J Allergy Clin Immunol. Mar 2012;129(3):875-876 e875. PMID: 22386446. Pending PMCID.

The long quest for neonatal screening for severe combined immunodeficiency. Buckley RH. J Allergy Clin Immunol. Mar 2012;129(3):597-604; quiz 605-596. PMID: 22277203, PMCID: PMC3294102.

Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. Tison BE, Nicholas SK, Abramson SL, et al. J Allergy Clin Immunol. Nov 2011;128(5):1115-1117 e1111-1113. PMID: 21835443. Pending PMCID.

Chronic granulomatous disease: lessons from a rare disorder. Segal BH, Veys P, Malech H, Cowan MJ. Biol Blood Marrow Transplant. 2011 Jan;17(1 Suppl):S123-31. doi: 10.1016/j.bbmt.2010.09.008.

Decline of antibodies in XLA infant: when to start IVIG. Okocha IU, Hanson CG, Chinen J, Shearer WT. Allergy. 2011 Mar;66(3):434-5. doi: 10.1111/j.1398-9995.2010.02481.x. Epub 2010 Sep 7.

Early versus delayed diagnosis of SCID: triumph versus tragedy. Nicholas S, Krance RA, Hanson IC, et al. Clin Immunol. Jun 2011;139(3):360-362. PMID: 21497138. Pending PMCID.

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, Roberts J, Kavanau K, Dunn E, Stiehm ER, Lewis DB, Umetsu DT, Puck JM, Cowan MJ. Pediatr Transplant. 2011 Nov;15(7):733-41. doi: 10.1111/j.1399-3046.2011.01563.x. Epub 2011 Aug 23.

Hematopoietic stem cell transplantation for CD3δ deficiency. Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM. J Allergy Clin Immunol. 2011 Nov;128(5):1050-7. doi: 10.1016/j.jaci.2011.05.031. Epub 2011 Jul 16.

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD. Blood. 2011 Dec 22;118(26):6824-35. doi: 10.1182/blood-2011-06-362533. Epub 2011 Oct 28.

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD. Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9.

Neonatal screening for severe combined immunodeficiency. Puck JM. Curr Opin Pediatr. 2011 Dec;23(6):667-73. doi: 10.1097/MOP.0b013e32834cb9b0.

The case for newborn screening for severe combined immunodeficiency and related disorders. Puck JM. Ann N Y Acad Sci. 2011 Dec;1246:108-17. doi: 10.1111/j.1749-6632.2011.06346.x.

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Buckley RH. Immunol Res. Apr 2011;49(1-3):25-43. PMID: 21116871, PMCID: PMC3798033.

WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, Hudkins KL, Liu C, Sather BD, Khim S, Liggitt D, Song W, Silverman GJ, Alpers CE, Rawlings DJ. J Exp Med. Sep 26 2011;208(10):2033-2042. PMID: 21875954, PMCID: PMC3182055.

Advances in basic and clinical immunology in 2009. Chinen J, Shearer WT. J Allergy Clin Immunol. Mar 2010;125(3):563-568. PMID: 20226292, PMCID: PMC2841291.

B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review. Buckley RH. J Allergy Clin Immunol. Apr 2010;125(4):790-797. PMID: 20371393, PMCID: PMC2857969.

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14.

Radiosensitive severe combined immunodeficiency disease. Dvorak CC, Cowan MJ. Immunol Allergy Clin North Am. 2010 Feb;30(1):125-42. doi: 10.1016/j.iac.2009.10.004.

Secondary immunodeficiencies, including HIV infection. Chinen J, Shearer WT. J Allergy Clin Immunol. 2010 Feb; 125(2 Suppl 2):S195-203. PMID: 20042227. Pending PMCID.

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Clin Immunol. 2010 Sep;136(3):409-18. doi: 10.1016/j.clim.2010.04.011. Epub 2010 May 15.

Advances in basic and clinical immunology in 2008. Chinen J, Shearer WT. J Allergy Clin Immunol. Feb 2009;123(2):328-332. PMID: 19203657. Pending PMCID.

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022.

Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning. Patel NC, Chinen J, Rosenblatt HM, et al. J Allergy Clin Immunol. Nov 2009;124(5):1062-1069 e1061-1064. PMID: 19895994, PMCID: PMC3271026.

Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Sarzotti-Kelsoe M, Win CM, Parrott RE, et al. Blood. Aug 13 2009;114(7):1445-1453. PMID: 19433858, PMCID: PMC2727406.

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT. J Allergy Clin Immunol. 2008 Dec;122(6):1087-96. doi: 10.1016/j.jaci.2008.09.045. Epub 2008 Nov 6.

Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. Patel NC, Chinen J, Rosenblatt HM, et al. J Allergy Clin Immunol. Dec 2008;122(6):1185-1193. PMID: 19084111. Pending PMCID.

Treatment of immunodeficiency: long-term outcome and quality of life. Shearer WT, Notarangelo LD, Griffith LM. J Allergy Clin Immunol. Dec 2008;122(6):1065-1068. PMID: 19084107. Pending PMCID.