X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)

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).

Alternative names

EDA-ID, HED-ID

XHM-ED

Nemo deficiency

X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Classification

  • Defects of innate immune system, receptors and signaling components

Inheritance

X-linked

OMIM

#300291 Ectodermal dysplasia, hypohidrotic, with immune deficiency

*300248 Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma; IKBKG

Cross references

Genetically related immunodeficiencies

IDR factfile for non - X-linked hyper-IgM syndrome

Incidence

Incidence is not known.