DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for immunodeficiency 33

Immunodeficiency 33 [DOID:0112003]

A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.

Synonyms:  immunodeficiency 33,  DOID:0112003,  IMD33,  X-linked MSMD due to IKBKG deficiency,  X-linked MSMD due to NEMO deficiency ...