Associated Papers
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function.
Liu X et al.
The Journal of Allergy and Clinical Immunology, 2024
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano T et al.
Immunological Reviews, 2024
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A et al.
Journal of Clinical Immunology, 2022
35486339 (PubMed )
Supplement: 10875_2022_1257_MOESM1_ESM.docx
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Giovannozzi S et al.
Frontiers in Immunology, 2020
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.
Stellacci E et al.
Clinical Genetics, 2019
Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.
Kiykim A et al.
Journal of Clinical Immunology, 2019
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
Leiding JW et al.
The Journal of Allergy and Clinical Immunology, 2018
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M et al.
Journal of Clinical Immunology, 2016
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