Human genes for immunodeficiency 63
Immunodeficiency 63 [DOID:0111997]
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 IL2RB on chromosome 22q12.3.
Synonyms: immunodeficiency 63, DOID:0111997, IL2RB deficiency, IMD63, immunodeficiency 63 with lymphoproliferation and autoimmunity