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

@article{Courtois2003AHI,
  title={A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.},
  author={Gilles Courtois and Asma Smahi and Janine Reichenbach and Rainer D{\"o}ffinger and Caterina Cancrini and Marion C Bonnet and Anne Puel and Christine Chable-Bessia and Shoji Yamaoka and Jacqueline Feinberg and Sophie Dupuis-Girod and Christine Bodemer and Susanna Livadiotti and Francesco Novelli and Paolo Rossi and Alain Fischer and Alain Isra{\"e}l and Arnold Munnich and Françoise le Deist and J. Hugo P{\'e}rez Casanova},
  journal={The Journal of clinical investigation},
  year={2003},
  volume={112 7},
  pages={1108-15}
}
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 translocate into the nucleus where they activate their target genes. Here, we describe an… CONTINUE READING
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Essential role of NF-κB-inducing kinase in T cell activation through the TCR/CD3 pathway

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