LymphedemaV1, France, Analysis, bibRecord, 000285

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

Identifieur interne : 000285 ( France/Analysis ); précédent : 000284; suivant : 000286

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

Auteurs : Capucine Picard [France] ; Jean-Laurent Casanova [France, États-Unis] ; Anne Puel [France]

Source :

Clinical Microbiology Reviews [ 0893-8512 ] ; 2011.

RBID : PMC:3131061

Abstract

Summary: Autosomal recessive IRAK-4 and MyD88 deficiencies predispose affected patients to recurrent invasive pyogenic bacterial infection. Both defects result in the selective impairment of cellular responses to Toll-like receptors (TLRs) other than TLR3 and of cellular responses to most interleukin-1 receptors (IL-1Rs), including IL-1R, IL-18R, and IL-33R. Hypomorphic mutations in the X-linked NEMO gene and hypermorphic mutations in the autosomal IKBA gene cause X-linked recessive and autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) syndromes. Both of these defects impair NF-κB-mediated cellular responses to multiple receptors, including TLRs, IL-1Rs, and tumor necrosis factor receptors (TNF-Rs). They therefore confer a much broader predisposition to infections than that for IRAK-4 and MyD88 deficiencies. These disorders were initially thought to be rare but have now been diagnosed in over 170 patients worldwide. We review here the infectious diseases affecting patients with inborn errors of NF-κB-dependent TLR and IL-1R immunity.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131061

DOI: 10.1128/CMR.00001-11
PubMed: 21734245
PubMed Central: 3131061

Affiliations:

Links to Exploration step

PMC:3131061

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p>Summary: Autosomal recessive IRAK-4 and MyD88 deficiencies predispose affected patients to recurrent invasive pyogenic bacterial infection. Both defects result in the selective impairment of cellular responses to Toll-like receptors (TLRs) other than TLR3 and of cellular responses to most interleukin-1 receptors (IL-1Rs), including IL-1R, IL-18R, and IL-33R. Hypomorphic mutations in the X-linked <italic>NEMO</italic>
 gene and hypermorphic mutations in the autosomal <italic>IKBA</italic>
 gene cause X-linked recessive and autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) syndromes. Both of these defects impair NF-κB-mediated cellular responses to multiple receptors, including TLRs, IL-1Rs, and tumor necrosis factor receptors (TNF-Rs). They therefore confer a much broader predisposition to infections than that for IRAK-4 and MyD88 deficiencies. These disorders were initially thought to be rare but have now been diagnosed in over 170 patients worldwide. We review here the infectious diseases affecting patients with inborn errors of NF-κB-dependent TLR and IL-1R immunity.</p>
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Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

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Abstract

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