Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation

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

(2017) Katja G. Weinacht et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

(2016) Eyal Grunebaum 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

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

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

(2015) Mark Depner et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Oral Valganciclovir as Preemptive Therapy for Cytomegalovirus Reactivation in Pediatric Hematopoietic Stem Cell Transplant Patients

(2015) Didem Atay et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

RETRACTED: Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: Complete clinical remission with restoration of IL-17 secretion

(2013) Gizi Wildbaum 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

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

Oral valganciclovir as preemptive therapy is effective for cytomegalovirus infection in allogeneic hematopoietic stem cell transplant recipients

(2009) Katsuto Takenaka et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY