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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKγ, the regulatory subunit of the IκB kinase (IKK) complex. IKK normally phosphorylates the IκB-inhibitors of NF-κB at specific serine residues, thereby promoting...

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Autores principales: 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, Deist, Françoise Le, Casanova, Jean-Laurent
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2003
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC198529/
https://ncbi.nlm.nih.gov/pubmed/14523047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI18714
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