Inherited disorders of NF-kappaB-mediated immunity in man.
about
Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association studyImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityFunctional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth AgenesisPersistent 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.CRAC channelopathies.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.Primary immunodeficiencies: a field in its infancy.NF-κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria.Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO geneInfectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.Inborn errors of anti-viral interferon immunity in humans.Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?Toll-like receptors in the pathogenesis of human disease.Toll-like receptor signaling in primary immune deficiencies.Molecular defects in T- and B-cell primary immunodeficiency diseases.The role of Toll-like receptors in immune disorders.Exploitation of the Toll-like receptor system in cancer: a doubled-edged sword?A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.Review: variability of host-pathogen interaction.A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.Toll-like receptors: their roles in bacterial recognition and respiratory infections.The zinc finger domain of IKKγ (NEMO) protein in health and diseaseA novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficienciesThe human NADPH oxidase: primary and secondary defects impairing the respiratory burst function and the microbicidal ability of phagocytes.Novel IkB kinase inhibitors for treatment of nuclear factor-kB-related diseases.TLR4 polymorphisms and disease susceptibility.Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses.ICON: the early diagnosis of congenital immunodeficiencies.
P2860
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P2860
Inherited disorders of NF-kappaB-mediated immunity in man.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Inherited disorders of NF-kappaB-mediated immunity in man.
@ast
Inherited disorders of NF-kappaB-mediated immunity in man.
@en
type
label
Inherited disorders of NF-kappaB-mediated immunity in man.
@ast
Inherited disorders of NF-kappaB-mediated immunity in man.
@en
prefLabel
Inherited disorders of NF-kappaB-mediated immunity in man.
@ast
Inherited disorders of NF-kappaB-mediated immunity in man.
@en
P50
P1476
Inherited disorders of NF-kappaB-mediated immunity in man
@en
P2093
Cheng-Lung Ku
P356
10.1016/J.COI.2003.11.013
P577
2004-02-01T00:00:00Z