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GTR Home > Conditions/Phenotypes > Immunodeficiency 15a

Immunodeficiency 15a

Summary

Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IKK-2, IKK-beta, IKK2, IKKB, IMD15, IMD15A, IMD15B, NFKBIKB, IKBKB
    Summary: inhibitor of nuclear factor kappa B kinase subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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