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GTR Home > Conditions/Phenotypes > Immunodeficiency 87 and autoimmunity

Immunodeficiency 87 and autoimmunity

Summary

Immunodeficiency-87 and autoimmunity (IMD87) is 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 (summary by Serwas et al., 2019 and Fournier et al., 2021). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IBP, IMD87, SLAT, SWAP70L, DEF6
    Summary: DEF6 guanine nucleotide exchange factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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