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.