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
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
Clinical analysis of hyperimmunoglobulin E syndrome in children with STAT3 and DOCK8 mutations in different genotypes.
Xu CD et al.
Translational Pediatrics, 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
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
Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.
Kim JJ et al.
Cancer Research and Treatment, 2024
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in Immunology, 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
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
Deng M et al.
Frontiers in Immunology, 2022
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia.
Sogkas G et al.
Annals of the Rheumatic Diseases, 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
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
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