Disease-gene associations mined from literature

Human genes for immunodeficiency 53

Immunodeficiency 53 [DOID:0111992]

A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32.

Synonyms:  immunodeficiency 53,  DOID:0111992,  IMD53