Associated Papers
Gain-of-Function Variant in STAT3 and Retinal Macular Edema: Insights into the IL-6 R/JAK/STAT3 Pathway in Retinal Pigment Epithelium.
Zhou Z et al.
Ocular Immunology and Inflammation, 2026
STAT3 SH2 Domain Aspartic Acid 661 Mutations Activate Immune Gene Programs.
Lee HK et al.
Journal of Cellular and Molecular Medicine, 2026
Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant.
Ravi R et al.
European Thyroid Journal, 2025
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
Mackie J et al.
Clinical and Experimental Immunology, 2025
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.
Duran JSC et al.
Biorxiv : the Preprint Server for Biology, 2024
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure.
Saito K et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice.
Toth KA et al.
The Journal of Experimental Medicine, 2024
STAT3 gain of function: Too much of a good thing in the skin!
Ma CS et al.
The Journal of Experimental Medicine, 2024
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.
Zhou Q et al.
Molecular Genetics & Genomic Medicine, 2024
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
Monogenic inborn errors of immunity in autoimmune disorders.
Venkatachari IV et al.
Immunologic Research, 2023
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW et al.
The Journal of Allergy and Clinical Immunology, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Masle-Farquhar E et al.
Immunity, 2022
Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples.
Lugo Reyes SO et al.
Aids (london, England), 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
Gothe F et al.
Pediatric Pulmonology, 2021
STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16+ Monocytes and CD141+ Dendritic Cells.
Korenfeld D et al.
Journal of Immunology (baltimore, Md. : 1950), 2021
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.
Domené S et al.
Cells, 2021
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
[Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study].
Yao AQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Papilledema from gain-of-function mutations in the STAT3 gene.
Suh YW et al.
Ophthalmic Genetics, 2019
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Parlato M et al.
Gastroenterology, 2019
Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond.
Fabbri M et al.
Diabetes, 2019
Mutations in the signal transducer and activator of transcription family of genes in cancer.
Shahmarvand N et al.
Cancer Science, 2018
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
Besnard C et al.
Clinical Immunology (orlando, Fla.), 2018
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? .
Sediva H et al.
Hormone Research in Paediatrics, 2017
Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.
Kortuem KM et al.
Blood Cancer Journal, 2016
The Ying and Yang of STAT3 in Human Disease.
Vogel TP et al.
Journal of Clinical Immunology, 2015
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.
Wienke J et al.
Oncotarget, 2015
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Milner JD et al.
Blood, 2015
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE et al.
Nature Genetics, 2014
Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report.
Zhang W et al.
Therapeutic Advances in Respiratory Disease, 0