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Inherited disorders of NF-κB-mediated immunity in man

✍ Scribed by Anne Puel; Capucine Picard; Cheng-Lung Ku; Asma Smahi; Jean-Laurent Casanova

Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
414 KB
Volume
16
Category
Article
ISSN
0952-7915

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✦ Synopsis

The transcription factors of the NF-kB family play an important role in immunity to infection in animal models. Three human primary immunodeficiencies associated with impaired NF-kB signaling were recently described. X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/ IKKg, the regulatory subunit of the IkB-kinase (IKK) complex. Autosomal dominant EDA-ID (AD-EDA-ID) is caused by a hypermorphic mutation in the gene encoding the inhibitory protein IkBa. Autosomal recessive immunodeficiency without EDA is caused by mutations in the gene encoding IRAK-4, a kinase acting upstream from the IKK complex in the TIR signaling pathway. The description of the infectious phenotypes associated with these genetic defects has initiated the forward genetic dissection of NF-kB-mediated immunity in man.

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