Immunodeficiency 87 and autoimmunity

An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.

Also known as: IMD87, immunodeficiency due to DEF6 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 87 and autoimmunity itself.