Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
ED Carrol, AR Gennery, TJ Flood… - Archives of disease in …, 2003 - adc.bmj.com
ED Carrol, AR Gennery, TJ Flood, GP Spickett, M Abinun
Archives of disease in childhood, 2003•adc.bmj.comAnhidrotic (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 κB (N F-κB) e ssential mo dulator, NEMO, or
inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor
NF-κB, which plays an important role in human development, skin homoeostasis, and
immunity.
OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in
NEMO, the gene encoding nuclear factor κB (N F-κB) e ssential mo dulator, NEMO, or
inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor
NF-κB, which plays an important role in human development, skin homoeostasis, and
immunity.
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 κB (NF-κB) essential modulator, NEMO, or inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor NF-κB, which plays an important role in human development, skin homoeostasis, and immunity.
adc.bmj.com