immunodeficiency 33 (DOID:0112003)
Alliance: disease page
Synonyms: IMD33; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency; X-linked MSMD due to IKBKG deficiency; X-linked MSMD due to NEMO deficiency
Alt IDs: OMIM:300636, MESH:C567070
Definition: 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.