immunodeficiency 63 (DOID:0111997)
Alliance: disease page
Synonyms: IL2RB deficiency; IMD63; immunodeficiency 63 with lymphoproliferation and autoimmunity
Alt IDs: OMIM:618495, UMLS_CUI:C5193126
Definition: A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.