Diseases Studied

A term describing a group of over 400 rare, chronic disorders of varying severities, caused by inherited genetic defects. They are all characterized by weakened or absent immune systems that cannot properly protect the body from viruses, fungi, or bacteria. This results in recurrent, persistent, sometimes life-threatening infections. Common symptoms include pneumonia, bronchitis, meningitis, chronic diarrhea, skin rashes, oral thrush (a fungal mouth infection), and frequent infections of the sinuses and ears.

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 in the immune response can lead to underactive or, most commonly, overactive immune function. This is called immune dysregulation.

A severe form of primary immune deficiency characterized by extreme weakness or absence of immune system function, manifesting at birth. A dysfunctional immune system is unable to properly defend the body from bacteria, fungi, or viruses, resulting in recurrent, persistent, sometimes life-threatening infections. Common symptoms include chronic diarrhea, failure to thrive (feeding or growth problems), weakness, pneumonia, skin rashes, and oral thrush (a fungal mouth infection).

A disorder characterized by immunodeficiency (weakened immune system) due to abnormal or dysfunctional white blood cells. Symptoms include eczema (inflamed patches of red, irritated skin) and microthrombocytopenia (low levels and decreased size of platelets) which lowers blood clotting ability. Affected individuals have a high bleeding predisposition, higher risk of developing lymphoma (cancer of the immune system cells) and autoimmune disorders, such as rheumatoid arthritis, vasculitis (inflammation of the blood vessels), or hemolytic anemia (self-destruction of red blood cells).