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Article

Heritable defects of the human TLR signalling pathways.

Journal of endotoxin research - 1 Jan 2005

Puel Anne, Yang Kun, Ku Cheng-Lung, von Bernuth Horst, Bustamante Jacinta, Santos Orchidée Filipe, Lawrence Tatiana, Chang Huey-Hsuan, Al-Mousa Hamoud, Picard Capucine, Casanova Jean-Laurent

Abstract excerpt

Recently, three human primary immunodeficiencies associated with impaired TLR signalling were described. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), either X-linked recessive or autosomal dominant, is caused by hypomorphic mutations in NEMO or hypermorphic mutation in IKBA, respectively, both involved in nuclear factor-kappaB (NF-kappaB) activation. These patients present with abnormal...

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Share to Ectodermal Dysplasia
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Models, Immunological

Share to NF-kappa B

Share to Receptors, Cell Surface

Share to Receptors, Interleukin-1

Share to Toll-Like Receptors

Source

Identifiers

PMID: 16176658
DOI: 10.1179/096805105X37367

Genes

EDA
IRAK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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