Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1

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

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

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  

(2013) E. Salzer et al.   BLOOD

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

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

(2013) Elizabeth P. Sampaio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1

(2013) Nigel Sharfe et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation

(2013) Juan Carlos Aldave et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

(2013) Y. Mizoguchi et al.   JOURNAL OF LEUKOCYTE BIOLOGY

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

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

(2012) László Maródi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

(2012) Tomohiro Hori et al.   JOURNAL OF 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