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Disease Ontology Browser
immunodeficiency 41 (DOID:0111968)
Alliance: disease page
Synonyms: CD25 deficiency; IL2RA deficiency; IMD41; immunodeficiency 41 with lymphoproliferation and autoimmunity; immunodeficiency due to CD25 deficiency; interleukin-2 receptor alpha chain deficiency
Alt IDs: OMIM:606367, MESH:C565232, ORDO:169100
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory