has material basis in germline mutation in DEF6 immunodeficiency disease immunodeficiency 87 and autoimmunity https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_87_and_autoimmunity IMD87 OMIM:619573 MONDO:0030457 UMLS:C5562070 immunodeficiency due to DEF6 deficiency MEDGEN:1794280 DOID:0061057 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.