A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation
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Title
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation
Authors
Keywords
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Journal
Frontiers in Immunology
Volume 8, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2017-03-13
DOI
10.3389/fimmu.2017.00274
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Related references
Note: Only part of the references are listed.- Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
- (2016) J. Toubiana et al. BLOOD
- Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation
- (2016) Ali Sobh et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
- (2016) Safa Baris et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Treatment options for chronic mucocutaneous candidiasis
- (2016) Frank L. van de Veerdonk et al. JOURNAL OF INFECTION
- STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases
- (2016) Tiziana Lorenzini et al. JOURNAL OF LEUKOCYTE BIOLOGY
- Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)
- (2015) Jie Zheng et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation
- (2015) Eleanor Higgins et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
- (2013) Gulbu Uzel et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival
- (2013) Neil Romberg et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- New and recurrent gain-of-functionSTAT1mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
- (2013) Beáta Soltész et al. JOURNAL OF MEDICAL GENETICS
- Interleukin-27 Priming of T Cells Controls IL-17 Production In trans via Induction of the Ligand PD-L1
- (2012) Kiyoshi Hirahara et al. IMMUNITY
- Use and interpretation of diagnostic vaccination in primary immunodeficiency: A working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology
- (2012) Jordan S. Orange et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
- (2011) Luyan Liu et al. JOURNAL OF EXPERIMENTAL MEDICINE
- STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
- (2011) Frank L. van de Veerdonk et al. NEW ENGLAND JOURNAL OF MEDICINE
- Th17 cells at the crossroads of innate and adaptive immunity against infectious diseases at the mucosa
- (2009) S A Khader et al. Mucosal Immunology
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