immunodeficiency 33

info · Immune

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.

Signs and symptoms

Recurrent bacterial infections
Pneumocystis jirovecii pneumonia
Immunodeficiency
Conical tooth
Decreased circulating IgM concentration
Disseminated non-tuberculous mycobacterial infection
Increased circulating IgA concentration
Hypodontia
Delayed eruption of teeth

Also known as: IMD33; X-linked MSMD due to IKBKG deficiency; X-linked MSMD due to NEMO deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency