Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
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Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesUnbalanced Immune System: Immunodeficiencies and AutoimmunityA 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 ImmunodeficienciesImmunity against fungi.Recurrent and Sustained Viral Infections in Primary Immunodeficiencies.Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.Making sense of the cause of Crohn's - a new look at an old disease.Novel Stat1 Mutation Disrupts Small Ubiquitin-Related Modifier (Sumo) Conjugation Causing Gain Of Function.Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.STAT1 Represses Cytokine-Producing Group 2 and Group 3 Innate Lymphoid Cells during Viral Infection.Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.Canonical and Non-Canonical Aspects of JAK-STAT Signaling: Lessons from Interferons for Cytokine Responses.Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.Chronic Candidiasis in Children.Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.The Goldilocks model of immune symbiosis with Mycobacteria and Candida colonizers.Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.Cytokine-Mediated Regulation of Human Lymphocyte Development and Function: Insights from Primary Immunodeficiencies.Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation.Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience.PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome.Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortFungal interactions with the human host: exploring the spectrum of symbiosis.Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.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.Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.Nuclear RNF2 inhibits interferon function by promoting K33-linked STAT1 disassociation from DNA.Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism?The Role of IL-17 in Protection against Mucosal Candida Infections.Patient Susceptibility to Candidiasis-A Potential for Adjunctive Immunotherapy.Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.
P2860
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P2860
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
description
2016 nî lūn-bûn
@nan
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին 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
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@ast
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@en
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@nl
type
label
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@ast
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@en
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@nl
prefLabel
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@ast
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@en
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@nl
P2093
P2860
P50
P1433
P1476
Heterozygous STAT1 gain-of-fun ...... edly broad clinical phenotype.
@en
P2093
Amos Etzioni
Aziz Bousfiha
Bernd Belohradsky
Bodo Grimbacher
Carlos Rodriguez-Gallego
Desa Lilic
Ellen D Renner
Fanny Fouyssac
Frank L van de Veerdonk
International STAT1 Gain-of-Function Study Group
P2860
P304
P356
10.1182/BLOOD-2015-11-679902
P407
P50
P577
2016-04-25T00:00:00Z