Defects in IKBKG, a modulator of NF-kB activation, are the cause of anhidrotic (hypohidrotic) ectodermal dysplasia with immunodeficiency (specific antibody deficiency), characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities (lack of antibody response to plysaccharides) resulting in severe infectious diseases (mycobacteria and pyogens).
X-linked anhidrotic ectodermal dysplasia with immunodeficiency
- Defects of innate immune system, receptors and signaling components
Genetically related immunodeficiencies
Incidence is not known.