A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
about
SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complexRole of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptorSINTBAD, a novel component of innate antiviral immunity, shares a TBK1-binding domain with NAP1 and TANKMutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasiaMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityBK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiencyA role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alphaSpecific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasiaNF-kappaB-related genetic diseasesSignals from within: the DNA-damage-induced NF-kappaB responsePolyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)Opg, Rank, and Rankl in tooth development: co-ordination of odontogenesis and osteogenesisUpdate on the hyper immunoglobulin M syndromesDeficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome.Clinical impacts of genomic copy number gains at Xq28Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome.IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.Invasive pneumococcal disease in children can reveal a primary immunodeficiency.Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.Ectodermal dysplasias: a new clinical-genetic classificationCRAC channelopathies.Death receptor signaling giving life to ectodermal organs.The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation.Inherited disorders of human Toll-like receptor signaling: immunological implications.The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.NF-kappaB family of transcription factors: central regulators of innate and adaptive immune functions.NF-κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria.Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
P2860
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P2860
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
description
2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@ast
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@en
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@nl
type
label
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@ast
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@en
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@nl
prefLabel
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@ast
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@en
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@nl
P2093
P2860
P3181
P356
P1476
A novel X-linked disorder of i ...... mutations in IKK-gamma (NEMO)
@en
P2093
B M Ferguson
L C Schneider
P A Farndon
P2860
P304
P3181
P356
10.1086/316914
P407
P577
2000-12-01T00:00:00Z