Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in human development, skin homoeostasis, and immunity.
Carrol
E D
ED
Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Gennery
A R
AR
Flood
T J
TJ
Spickett
G P
GP
Abinun
M
M
D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000628:therapy; D005500:Follow-Up Studies; D006801:Humans; D051550:I-kappa B Kinase; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D016756:Immunoglobulins, Intravenous; D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human