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

R Döffinger, A Smahi, C Bessia, F Geissmann, J Feinberg, A Durandy, C Bodemer, S Kenwrick, S Dupuis-Girod, S Blanche, P Wood, S H Rabia, D J Headon, P A Overbeek, F Le Deist, S M Holland, K Belani, D S Kumararatne, A Fischer, R Shapiro, M E Conley, E Reimund, H Kalhoff, M Abinun, A Munnich, A Israël, G Courtois, J L 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 (IkappaB kinase) complex, which is essential for NF-kappaB 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-kappaB signaling. We also show that the ectodysplasin receptor, DL, triggers NF-kappaB through the NEMO protein, indicating that EDA results from impaired NF-kappaB signaling. Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1beta, IL-18, TNFalpha and CD154. We thus report for the first time that impaired but not abolished NF-kappaB signaling in humans results in two related syndromes that associate specific developmental and immunological defects. More... »

PAGES

277-285

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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