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Vered Molho-Pessach et al.
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Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation
M. Saez-de-Ocariz et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2020)
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JOURNAL OF CLINICAL IMMUNOLOGY (2019)
Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation
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Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib
Tariq Al Shehri et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2019)
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function
Elizabeth P. Sampaio et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
Jennifer W. Leiding et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
Anna E. Smyth et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation
Marketa Bloomfield et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
Anti-IFN-γ Antibody Promotes Osteoclastogenesis in Human Bone Marrow Monocyte-Derived Macrophages Co-Cultured with Tuberculosis-Activated Th1 Cells
Jiezhong Deng et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Lisa R. Forbes et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency
Stella P. Hartono et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
IFNγ: signalling, epigenetics and roles in immunity, metabolism, disease and cancer immunotherapy
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STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases
Tiziana Lorenzini et al.
JOURNAL OF LEUKOCYTE BIOLOGY (2017)
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
Reiko Kagawa et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
Katja G. Weinacht et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
Rosacea and demodicidosis associated with gain-of-function mutation in STAT1
J. Second et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2017)
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Julie Toubiana et al.
BLOOD (2016)
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature
Christa S. Zerbe et al.
CLINICAL INFECTIOUS DISEASES (2016)
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation
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CLINICAL INFECTIOUS DISEASES (2016)
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation
Eleanor Higgins et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2015)
Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Jacinta Bustamante et al.
SEMINARS IN IMMUNOLOGY (2014)
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
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JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent With Inherited STAT1 Deficiency
Oded Shamriz et al.
PEDIATRIC INFECTIOUS DISEASE JOURNAL (2013)
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
Miyuki Tsumura et al.
HUMAN MUTATION (2012)
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
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JOURNAL OF EXPERIMENTAL MEDICINE (2011)
Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis
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LANCET NEUROLOGY (2011)
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
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NEW ENGLAND JOURNAL OF MEDICINE (2011)
THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1
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PEDIATRIC INFECTIOUS DISEASE JOURNAL (2011)
A novel form of human STAT1 deficiency impairing early but not late responses to interferons
Xiao-Fei Kong et al.
BLOOD (2010)
A partial form of recessive STAT1 deficiency in humans
Ariane Chapgier et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
Ariane Chapgier et al.
PLOS GENETICS (2006)
Human complete Stat-1 deficiency is associated with defective type I and IIIFN responses in vitro but immunity to some low virulence viruses in vivo
Ariane Chapgier et al.
JOURNAL OF IMMUNOLOGY (2006)
Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
S Dupuis et al.
NATURE GENETICS (2003)
Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation
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SCIENCE (2001)
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