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
Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma.
Vallois D et al.
Leukemia, 2026
STAT3 SH2 Domain Aspartic Acid 661 Mutations Activate Immune Gene Programs.
Lee HK et al.
Journal of Cellular and Molecular Medicine, 2026
Mycobacterium intracellulare Infection in a Japanese Patient with Signal Transducer and Activator of Transcription-3 Gain-of-Function Syndrome: A Case Report.
Hagiya H et al.
Internal Medicine (tokyo, Japan), 2025
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.
Duran JSC et al.
Biorxiv : the Preprint Server for Biology, 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
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.
Stelmach P et al.
Haematologica, 2023
TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.
Johnson WT et al.
Blood Advances, 2023
The ups and downs of STAT3 function: too much, too little and human immune dysregulation.
Mackie J et al.
Clinical and Experimental Immunology, 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
High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls.
Valori M et al.
Plos One, 2022
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM et al.
Clinical and Experimental Immunology, 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
Somatic mutations and T-cell clonality in patients with immunodeficiency.
Savola P et al.
Haematologica, 2020
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.
de Araujo ED et al.
Cancers, 2019
Papilledema from gain-of-function mutations in the STAT3 gene.
Suh YW et al.
Ophthalmic Genetics, 2019
Mutations in the signal transducer and activator of transcription family of genes in cancer.
Shahmarvand N et al.
Cancer Science, 2018
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.
Nabhani S et al.
Clinical Immunology (orlando, Fla.), 2017
[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].
Ding Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.
Bouska A et al.
Leukemia, 2017
Distinct mutations at the same positions of STAT3 cause either loss or gain of function.
Chandrasekaran P et al.
The Journal of Allergy and Clinical Immunology, 2016
Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.
Roberti A et al.
Nature Communications, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
The Ying and Yang of STAT3 in Human Disease.
Vogel TP et al.
Journal of Clinical Immunology, 2015
Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.
Creixell P et al.
Cell, 2015
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM et al.
Blood, 2015
The analysis of clonal diversity and therapy responses using STAT3 mutations as a molecular marker in large granular lymphocytic leukemia.
Rajala HL et al.
Haematologica, 2015
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE et al.
Nature Genetics, 2014
Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.
Kristensen T et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Uncovering the pathogenesis of large granular lymphocytic leukemia-novel STAT3 and STAT5b mutations.
Rajala HL et al.
Annals of Medicine, 2014
A targeted mutational landscape of angioimmunoblastic T-cell lymphoma.
Odejide O et al.
Blood, 2014
Somatic STAT3 mutations in large granular lymphocytic leukemia.
Koskela HL et al.
The New England Journal of Medicine, 2012
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