Disease-gene associations mined from literature

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