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Immunodeficiency 85 and autoimmunity

Summary

Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD85, TOM1
    Summary: target of myb1 membrane trafficking protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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