Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia


The gene that encodes nuclear factor κ (NF-κB) essential modulator (or NEMO, also known as IKKγ) is required for activation of the transcription factor NF-κB. We describe mutations in the puta-tive zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED… (More)
DOI: 10.1038/85277

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