A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

doi:10.1172/JCI18714

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Article

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

The Journal of clinical investigation - 1 Oct 2003

Courtois Gilles, Smahi Asma, Reichenbach Janine, Döffinger Rainer, Cancrini Caterina, Bonnet Marion, Puel Anne, Chable-Bessia Christine, Yamaoka Shoji, Feinberg Jacqueline, Dupuis-Girod Sophie, Bodemer Christine, Livadiotti Susanna, Novelli Francesco, Rossi Paolo, Fischer Alain, Israël Alain, Munnich Arnold, Le Deist Françoise, Casanova Jean-Laurent

Abstract excerpt

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB kinase (IKK) complex. IKK normally phosphorylates the IkappaB-inhibitors of NF-kappaB at specific serine residues, thereby promoting their ubiquitination and degradation by the proteasome. This allows NF-kappaB complexes to...

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PMID: 14523047
DOI: 10.1172/JCI18714
PMCID: PMC198529

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A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.PMID 14523047Read ↗

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