A novel STAT1 mutation associated with disseminated mycobacterial disease.
about
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypesPrimary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestationsMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity'"Why me, why now?" Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infectionEarly-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsRegulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.Clinically relevant dimer interface mutants of STAT1 transcription factor exhibit differential gene expression.Host-Mycobacterium avium subsp. paratuberculosis interactome reveals a novel iron assimilation mechanism linked to nitric oxide stress during early infection.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Inborn errors of human JAKs and STATs.Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activityHaploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.Response to interferons and antibacterial innate immunity in the absence of tyrosine-phosphorylated STAT1A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitisNaive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.Periodontal and other oral manifestations of immunodeficiency diseases.Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses.
P2860
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P2860
A novel STAT1 mutation associated with disseminated mycobacterial disease.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@ast
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@en
type
label
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@ast
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@en
prefLabel
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@ast
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@en
P2093
P2860
P1476
A novel STAT1 mutation associated with disseminated mycobacterial disease.
@en
P2093
Christine Spalding
Dalton L Dias
Elizabeth McFarland
Elizabeth P Sampaio
Ervand Kristosturyan
Hannelore I Bax
Joseph Pechacek
Michelle L Paulson
P2860
P2888
P304
P356
10.1007/S10875-012-9659-2
P50
P577
2012-02-29T00:00:00Z
P6179
1045220516