Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
about
Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesA Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine RegulationA 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary ImmunodeficienciesAlanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.Chronic fatigue and immune deficiency syndrome (CFIDS), cellular metabolism, and ionizing radiation: a review of contemporary scientific literature and suggested directions for future research.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Furosine Induced Apoptosis by the Regulation of STAT1/STAT2 and UBA7/UBE2L6 Genes in HepG2 Cells.
P2860
Q28066193-C030016F-9505-4AF6-84BA-DB0269B85A1CQ30841541-BE0334A7-E2F9-4FC3-8E43-57B73E166F56Q33440609-E2C240EA-D336-4629-A8B8-ECA1EA0922D1Q40397387-A715C1E0-267A-4398-985E-82559DCA4799Q42638705-5FB590F0-6C3F-4471-BAEE-2B59EE0D3F12Q47129238-86248856-C97C-4090-8982-097DCBDBE650Q47142225-8FD57620-758A-429A-9380-666BCAEF582BQ47664691-9C638CA2-6AAD-48A2-A121-4CF2161D2AE9Q55514852-409A78C8-153F-4D33-A2E8-8D4C48C1F4EDQ55615396-A552B970-E4D4-41B7-AF7F-932233B13C09
P2860
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
description
2016 nî lūn-bûn
@nan
2016 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@ast
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@en
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@nl
type
label
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@ast
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@en
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@nl
prefLabel
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@ast
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@en
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@nl
P2093
P2860
P50
P1476
Severe Early-Onset Combined Im ...... of-Function Mutations in STAT1
@en
P2093
Elif Karakoc-Aydiner
Fayhan Alroqi
Isil B Barlan
Ismail Ogulur
Kaan Boztug
Louis-Marie Charbonnier
Mustafa Bakır
P2860
P2888
P304
P356
10.1007/S10875-016-0312-3
P577
2016-07-05T00:00:00Z
P6179
1050298967