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6906: Primary Immune Regulatory Disorders (PIRD): Longitudinal Study of Clinical Presentation, Treatment and Outcomes

Background

Primary Immune Regulatory Disorders (PIRD) are a diverse group of rare genetic conditions in which the immune system does not respond appropriately to challenges or is not appropriately regulated in its responses. These changes can lead to underactive or overactive immune function. This is called immune dysregulation. Multiple organ systems can be affected. These disorders can be caused by autoimmunity (a mistaken attack on healthy tissues or organs by the immune system), excessive inflammation (an overactive defense reaction by the immune system), and non-malignant lymphoproliferation (an abnormal increase in lymphocytes, a type of white blood cell). PIRD patients can be treated with different types of immune suppressive medications, and some are treated with a bone marrow transplant. Currently, there is limited data on what is the ideal treatment for treating PIRD patients.

About this Study

This study focuses on the natural history of patients with PIRD to help collect data on ideal therapies for these patients. There are two groups that are being studied. The first group enrolls patients who have clinical symptoms commonly seen in PIRD. These patients can have a known or unknown genetic defect. We will collect retrospective data from the medical chart and follow these patients over time prospectively. This study will help characterize the clinical symptoms and responses to treatments both medications and bone marrow transplant. The study will collect data yearly from the clinical record. There will also be research samples at the start of enrollment and one year later. If the patient receives a bone marrow transplant, research samples will be collected one month prior to transplant and a year later.

The second group is focused on family members of PIRD patients enrolled in the first group with a known genetic mutation. These family members will have the same genetic change but do not have clinical symptoms of PIRD. These participates will answer yearly questionnaires to monitor of symptoms.

Targeted Enrollment

Participants considered eligible to participate in the PIRD patient group include the following:

  • Males or females between the ages of 0-99 years old
  • Have some combination of the following clinical symptoms:
    • Immune-mediated gastrointestinal disease (eg inflammatory bowel disease, autoimmune enteropathy)
    • Lung disease that is not due to infection or asthma
    • Autoimmune blood diseases (eg autoimmune hemolytic anemia, autoimmune thrombocytopenia, autoimmune neutropenia)
    • Lymphoproliferation that is not from cancer (ie multiple enlarged lymph nodes and spleen)
    • Autoimmune endocrine disease (eg Type I Diabetes, Hashimoto’s Thyroiditis)
    • Immune-mediated liver disease not from infection or medication
    • Immune-mediated skin disease (eg eczema, psoriasis, etc.)
    • Rheumatologic disease (eg types of arthritis, myositis, vasculitis)
    • Low IgG levels not from gut or kidney loss and requiring IgG replacement
    • Onset of immune-mediated disease <5yo
  • May have a known PIRD gene mutation (eg ADAM17,, BACH2, CARD11, CD3G, CTLA4, DEF6, DOCK8, ERBIN, FOXP3, ICOS, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL21R, IL2RA, IRF2BP2, ITCH, JAK1, LRBA, MVK, NFAT5, NFKB1, NFKB2, NFKBIA, OTULIN, PIK3CD, PIK3R1, PRKCD, PSTPIP1, PTEN, RAG1, RAG2, RELA, STAT1, STAT3, STAT5B, TNFAIP3, WAS, WIP, XIAP). Newly described PIRD genes may also be included during this study.

Participants eligible to participate in the family member group have the following:

  • Parents or siblings of a PIRD patient enrolled in the study
  • Have the same genetic change as the PIRD patient
  • Do not have clinical symptoms that meet the criteria for the PIRD patient group

You are not eligible to participate if:

  • Eligible for another Primary Immune Deficiency Treatment Consortium (PIDTC) protocol
  • Have a known gene defect causing primary hemophagocytic lymphohistiocytosis (HLH)
  • Have documented HIV infection
Recruiting

Participating Sites

28 Oki Drive NW
Calgary, Alberta, Canada, T3B 6A8
https://www.albertahealthservices.ca/ach/ach.aspx


Contact: Victor Lewis

victor.lewis@ahs.ca

Nicola Wright

nicola.wright@ahs.ca

225 E Chicago Avenue
Chicago, Illinois, United States, 60611
https://www.luriechildrens.org


Contact: Sonali Chaudhury

schaudhury@luriechildrens.org

Aisha Ahmed

aiahmed@luriechildrens.org

1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/


Contact: Imelda Celine Hanson

3175, Chemin de la Côte-Sainte-Catherine
Montréal, Quebec, Canada, H3T 1C5
https://www.chusj.org/Home


Contact: Elie Haddad, MD, PhD

elie.haddad@umontreal.ca

1405 Clifton Road NE, 4th Floor, Tower 1
Atlanta, Georgia, United States, 30322
https://www.choa.org


Contact: Shanmuganathan Chandrakasan

shanmuganathan.chandrakasan@emory.edu

3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
https://www.chop.edu/


Contact: Soma Jyonouchi

jyonouchi@email.chop.edu

Neil Romberg

Kathleen Sullivan

sullivak@mail.med.upenn.edu

Jennifer Heimall

heimallj@email.chop.edu

Tim Olsen

Nancy Bunin

buninn@chop.edu

Caitlin Elgarten

elgartenc@chop.edu

Anne Wohlschlaeger

wohlschlaeger@chop.edu

Elisa Ochfeld

ochfelde@chop.edu

Sarah Henrickson

henricksons@email.chop.edu

4401 Penn Avenue
Pittsburgh, Pennsylvania, United States, 15224
https://www.chp.edu


Contact: Paul Szabolcs

paul.szabolcs@chp.edu

Hey Jin Chong

hey.chong@chp.edu

Jessie Barnum

jessie.barnum@chp.edu

8915 W Connell Court
Milwaukee, Wisconsin, United States, 53226
https://childrenswi.org/location-directory/locations/hospitals/milwaukee-hospital


Contact: Larisa Broglie

lbroglie@mcw.edu

111 Michigan Ave NW
Washington, District of Columbia, United States, 20010
https://childrensnational.org


Contact: Blachy Davila Saldana

bjdavilas1@childrensnational.org

Michael Keller

mkeller@childrensnational.org

Vanessa Bundy

vbundy2@childrensnational.org

30 Prospect Ave
Hackensack, New Jersey, United States, 07601
https://www.hackensackmeridianhealth.org/


Contact: Alfred Gillio

alfred.gillio@hackensackmeridian.org

555 University Avenue
Toronto, Ontario, Canada, M5G 1X8
https://www.sickkids.ca/


Contact: Eyal Grunebaum, MD

eyal.grunebaum@sickkids.ca

1580 NW 10th Avenue
Miami, Florida, United States, 33136
https://jacksonhealth.org/locations/jackson-memorial-hospital/


Contact: David Crawford

dfc71@med.miami.edu

Gary Kleiner

gary.kleiner@med.miami.edu

601 5th Street South, 3rd Floor
St. Petersburg, Florida, United States, 33701
https://www.jhu.edu/


Contact: Deepak Chellapandian

dchella2@jhmi.edu

Jolan Walter

jolanwalter@usf.edu

450 Serra Mall
Stanford, California, United States, 94305
https://www.stanford.edu/


Contact: Ami Shah

ashah5@stanford.edu

Rosa Bacchetta

rosab@stanford.edu

100 Woods Road
Valhalla, New York, United States, 10595
https://www.mariafarerichildrens.org


Contact: Edo Schaefer

Edo.Schaefer@wmchealth.org

10833 Le Conte Avenue, Room A2-410 MDCC
Los Angeles, California, United States, 90095-1752
https://www.ucla.edu/


Contact: Theodore Moore

tbmoore@mednet.ucla.edu

Caroline Kuo

ckuo@mednet.ucla.edu

200 First Street SW
Rochester, Minnesota, United States, 55905
https://www.mayoclinic.org/patient-visitor-guide/minnesota


Contact: Anvi Joshi

joshi.anvi@mayo.edu

5601 Fishers Lane, MSC 9806
Bethesda, Maryland, United States, 20892
https://www.niaid.nih.gov/


Contact: Ottavia Delmonte

ottavia.delmonte@nih.gov

700 Childrens Drive
Columbus, Ohio, United States, 43205
https://www.nationwidechildrens.org/


Contact: Hemalatha Rangarajan

hemalatha.rangarajan@nationwidechildrens.org

Roshini Abraham

roshini.abraham@nationwidechildrens.org

3959 Broadway
New York, New York, United States, 10032
https://www.nyp.org/locations/newyork-presbyterian-columbia-university-medical-center

1919 E Thomas Road
Phoenix, Arizona, United States, 85016
https://appointments.phoenixchildrens.com/Appointments/FindPatient


Contact: Roberta H. Adams

adams.roberta@mayo.edu

Holly Miller

hmiller2@phoenixchildrens.com

Keith Sacco

100 N. Mario Capecchi Drive
Salt Lake City, Utah, United States, 84113
https://www.utah.edu/


Contact: Ahmad Rayes

ahmad.rayes@hsc.utah.edu

Michael Pulsipher

michael.pulsipher@hci.utah.edu

3020 Children's Way, MC 5035
San Diego, California, United States, 92123
https://www.rchsd.org


Contact: Eric Anderson

eanderson@rchsd.org

1100 Fairview Avenue N, Mailstop D1-100
Seattle, Washington, United States, 98109
https://www.seattlechildrens.org/


Contact: Lauri M. Burroughs, MD

lburroug@fhcrc.org

Eric Allenspach

eric.allenspach@seattlechildrens.org

Karin Chen

karin.chen@seattlechildrens.org

Aleksandra Petrovic

aleksandra.petrovic@seattlechildrens.org

1 Brookings Drive
Saint Louis, Missouri, United States, 63130
https://www.stlouischildrens.org


Contact: Jeffrey Bednarski

bednarski_j@kids.wustl.edu

Megan Cooper

cooper_m@wustl.edu

1975 4th Steet
San Francisco, California, United States, 94158
https://www.ucsf.edu/


Contact: Jennifer Puck, MD

jennifer.puck@ucsf.edu

Christopher C. Dvorak, MD

christopher.dvorak@ucsf.edu

500 S State Street
Ann Arbor, Michigan, United States, 48109
https://www.uofmhealth.org


Contact: Gregory Yanik

gyanik@umich.edu

Mark Vander Lugt

marvande@med.umich.edu

420 Delaware Street SE, MMC 484
Minneapolis, Minnesota, United States, 55455
https://twin-cities.umn.edu/


Contact: Christen Ebens

ebens012@umn.edu

500 Joseph C. Wilson Boulevard
Rochester, New York, United States, 14627
https://www.rochester.edu/


Contact: Jeffrey Andolina

jeffrey_andolina@urmc.rochester.edu

5323 Harry Hines Boulevard
Dallas, Texas, United States, 75390
https://www.utsouthwestern.edu


Contact: Victor Aquino

victor.aquino@utsouthwestern.edu