X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-03

AUTHORS

Rainer Döffinger, Asma Smahi, Christine Bessia, Frédéric Geissmann, Jacqueline Feinberg, Anne Durandy, Christine Bodemer, Sue Kenwrick, Sophie Dupuis-Girod, Stéphane Blanche, Philip Wood, Smail Hadj Rabia, Denis J. Headon, Paul A. Overbeek, Françoise Le Deist, Steven M. Holland, Kiran Belani, Dinakantha S. Kumararatne, Alain Fischer, Ralph Shapiro, Mary Ellen Conley, Eric Reimund, Hermann Kalhoff, Mario Abinun, Arnold Munnich, Alain Israël, Gilles Courtois, Jean-Laurent Casanova

ABSTRACT

The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in the coding region of IKBKG are associated with EDA-ID, and stop codon mutations, with OL-EDA-ID. IKBKG encodes NEMO, the regulatory subunit of the IKK (IκB kinase) complex, which is essential for NF-κB signaling. Germline loss-of-function mutations in IKBKG are lethal in male fetuses. We show that IKBKG mutations causing OL-EDA-ID and EDA-ID impair but do not abolish NF-κB signaling. We also show that the ectodysplasin receptor, DL, triggers NF-κB through the NEMO protein, indicating that EDA results from impaired NF-κB signaling. Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1β, IL-18, TNFα and CD154. We thus report for the first time that impaired but not abolished NF-κB signaling in humans results in two related syndromes that associate specific developmental and immunological defects. More... »

PAGES

277-285

Journal

TITLE

Nature Genetics

ISSUE

3

VOLUME

27

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/85837

DOI

http://dx.doi.org/10.1038/85837

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029247068

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11242109


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