DISEASES

Disease-gene associations mined from literature

Human genes for immunodeficiency 41

Immunodeficiency 41 [DOID:0111968]

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 IL2RA on chromosome 10p15.1.

Synonyms:  immunodeficiency 41,  DOID:0111968,  CD25 deficiency,  IL2RA deficiency,  IMD41 ...