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Titolo:
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
Autore:
Jain, A; Ma, CA; Liu, SY; Brown, M; Cohen, J; Strober, W;
Indirizzi:
NIAID, Clin Invest Lab, NIH, Bethesda, MD 20892 USA NIAID Bethesda MD USA20892 Clin Invest Lab, NIH, Bethesda, MD 20892 USA NIH, Ctr Clin, Dept Nursing, Bethesda, MD 20892 USA NIH Bethesda MD USA 20892 Ctr Clin, Dept Nursing, Bethesda, MD 20892 USA NIH, Ctr Clin, Dept Lab Med, Bethesda, MD 20892 USA NIH Bethesda MD USA 20892 Ctr Clin, Dept Lab Med, Bethesda, MD 20892 USA
Titolo Testata:
NATURE IMMUNOLOGY
fascicolo: 3, volume: 2, anno: 2001,
pagine: 223 - 228
SICI:
1529-2908(200103)2:3<223:SMMINR>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
NF-KAPPA-B; X-LINKED IMMUNODEFICIENCY; CD40 LIGAND; DEFECTIVE INTERLEUKIN-1; IMMUNE-RESPONSES; KINASE COMPLEX; HUMAN HOMOLOG; ACTIVATION; CELLS; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Strober, W NIAID, Clin Invest Lab, NIH, Bldg 10, Bethesda, MD 20892 USA NIAID Bldg 10 Bethesda MD USA 20892 10, Bethesda, MD 20892 USA
Citazione:
A. Jain et al., "Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia", NAT IMMUNOL, 2(3), 2001, pp. 223-228

Abstract

The gene that encodes nuclear factor kappaB (NF-kappaB) essential modulator (or NEMO, also known as IKK gamma) is required for activation of the transcription factor NF-kappaB. We describe mutations in the putative zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED). These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (I kappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) ortumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. Nevertheless, innate immunity is preserved in XHM-ED patients because APCs retainthe capacity to respond to stimulation by lipopolysaccharide or Staphylococcus aureus Cowan's antigen (SAC). Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 11:00:20