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DOID:0111968 - immunodeficiency 41
Disease Ontology Definition:A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.
Synonyms: CD25 deficiency, IL2RA deficiency, IMD41, immunodeficiency 41 with lymphoproliferation and autoimmunity, immunodeficiency due to CD25 deficiency, interleukin-2 receptor alpha chain deficiency,
Xenbase Genes
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Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee