Associated Papers
Reduction in mucosal phosphorylated STAT3 under therapy with JAK inhibitor in STAT3 gain of function mutation - a case study.
Oberli R et al.
Virchows Archiv : an International Journal of Pathology, 2026
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
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
Baricitinib as a Steroid Sparing Agent to Curb the Immune Dysregulation Associated With Heterozygous STAT3 Mutations Causing Gain-Of-Function: A Case Report.
Chougule A et al.
International Journal of Rheumatic Diseases, 2025
Mutational heterogeneities in STAT3 and clonal hematopoiesis-related genes in acquired pure red cell aplasia.
Kawakami T et al.
Annals of Hematology, 2025
Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review.
Zhou P et al.
Frontiers in Pediatrics, 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
Integrated Clinical Genotype-Phenotype Characteristics of STAT3-Mutated Myeloid Neoplasms.
Ye MT et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.
Rivas-Delgado A et al.
Hemasphere, 2024
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation.
Consonni F et al.
Journal of Clinical Immunology, 2024
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 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
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in Immunology, 2023
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Castano-Jaramillo LM et al.
Journal of Genetics, 2023
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.
Kaneko S et al.
Immunotherapy Advances, 2023
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
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
Deng M et al.
Frontiers in Immunology, 2022
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
Gothe F et al.
Pediatric Pulmonology, 2021
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 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
Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.
Faletti L et al.
Biomedical Journal, 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
Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.
Wang W et al.
Bmc Immunology, 2021
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Schiavo E et al.
Frontiers in Immunology, 2021
Genomic characterization of HIV-associated plasmablastic lymphoma identifies pervasive mutations in the JAK-STAT pathway.
Liu Z et al.
Blood Cancer Discovery, 2020
STAT3 Mutation Is Associated with STAT3 Activation in CD30+ ALK- ALCL.
Andersson EI et al.
Cancers, 2020
STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection.
Gonzalez-Mancera MS et al.
Respiratory Medicine Case Reports, 2020
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia.
Ciullini Mannurita S et al.
Frontiers in Immunology, 2020
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
Strakova V et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Papilledema from gain-of-function mutations in the STAT3 gene.
Suh YW et al.
Ophthalmic Genetics, 2019
Oncogenic activation of the STAT3 pathway drives PD-L1 expression in natural killer/T-cell lymphoma.
Song TL et al.
Blood, 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