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.
Immunodeficiency 87 and autoimmunityD81.4
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
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).
ManifestationThis section has been translated automatically.
Infancy to early adolescence
Clinical featuresThis section has been translated automatically.
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.
LaboratoryThis section has been translated automatically.
Laboratory tests may show low or normal lymphocyte counts, often with a pathologic ratio of T-cell subsets.