Immunodeficiency 87 and autoimmunity D81.4

Immunodeficiency-87 and autoimmunity, or IMD87, is an autosomal recessive immune disorder with variable phenotype and severity caused by a homozygous mutation in the DEF6 gene (610094) located on chromosome 6p21.

The disease is primarily characterized by defects in T-cell function that cause both immune deficiency and overall immune dysregulation (Serwas et al. 2019 and Fournier et al. 2021).

Infancy to early adolescence

Affected individuals usually show increased susceptibility to infection, often with Epstein-Barr virus(EBV), in infancy or early childhood, as well as lymphadenopathy or autoimmune manifestations, especially hemolytic anemia.

Laboratory tests may show low or normal lymphocyte counts, often with a pathologic ratio of T-cell subsets.