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STAT3 gain-of-function syndrome
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Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1007/s10875-020-00914-3openalex-snapshot
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation
inferredcites →https://doi.org/10.1007/s10875-021-00980-1openalex-snapshot
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
inferredcites →https://doi.org/10.1007/s12026-021-09225-0openalex-snapshot
Phenotypes of STAT3 gain-of-function variant related to disruptive regulation of CXCL8/STAT3, KIT/STAT3, and IL-2/CD25/Treg axes
inferredcites →https://doi.org/10.1016/j.celrep.2017.03.055openalex-snapshot
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation
inferredcites →https://doi.org/10.1016/j.clim.2017.05.021openalex-snapshot
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds
inferredcites →https://doi.org/10.1016/j.clim.2017.12.009openalex-snapshot
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
inferredcites →https://doi.org/10.1016/j.clim.2019.108316openalex-snapshot
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
inferredcites →https://doi.org/10.1016/j.clinthera.2017.01.004openalex-snapshot
Tocilizumab Promotes Regulatory T-cell Alleviation in STAT3 Gain-of-function−associated Multi-organ Autoimmune Syndrome
inferredcites →https://doi.org/10.1016/j.cytogfr.2016.05.001openalex-snapshot
STAT3 signaling in immunity
inferredcites →https://doi.org/10.1016/j.immuni.2022.11.001openalex-snapshot
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation
inferredcites →https://doi.org/10.1016/j.jaci.2012.11.054openalex-snapshot
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
inferredcites →https://doi.org/10.1016/j.jaci.2018.07.020openalex-snapshot
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
inferredcites →https://doi.org/10.1016/j.jaci.2019.11.042openalex-snapshot
Erythropoiesis defect observed in STAT3 GOF patients with severe anemia
inferredcites →https://doi.org/10.1016/j.jaci.2022.06.007openalex-snapshot
STAT3-confusion-of-function: Beyond the loss and gain dualism
inferredcites →https://doi.org/10.1016/j.jaci.2022.09.002openalex-snapshot
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
inferredcites →https://doi.org/10.1016/j.jaip.2019.02.018openalex-snapshot
Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review
inferredcites →https://doi.org/10.1016/j.mce.2018.01.016openalex-snapshot
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
inferredcites →https://doi.org/10.1038/ng.3040openalex-snapshot
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
inferredcites →https://doi.org/10.1038/s41591-021-01388-5openalex-snapshot
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
inferredcites →https://doi.org/10.1053/j.gastro.2018.11.065openalex-snapshot
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation
inferredcites →https://doi.org/10.1056/nejmoa073687openalex-snapshot
STAT3 Mutations in the Hyper-IgE Syndrome
inferredcites →https://doi.org/10.1080/13816810.2019.1592202openalex-snapshot
Papilledema from gain-of-function mutations in the STAT3 gene
inferredcites →https://doi.org/10.1084/jem.20210759openalex-snapshot
A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance
inferredcites →https://doi.org/10.1093/rheumatology/key308openalex-snapshot
STAT3 gain of function: a new aetiology of severe rheumatic disease
inferredcites →https://doi.org/10.1097/moh.0000000000000206openalex-snapshot
Signal transducer and activator of transcription 3
inferredcites →https://doi.org/10.1111/cei.13625openalex-snapshot
Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype
inferredcites →https://doi.org/10.1126/sciimmunol.abb1662openalex-snapshot
Human inborn errors of immunity: An expanding universe
inferredcites →https://doi.org/10.1159/000456544openalex-snapshot
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
inferredcites →https://doi.org/10.1164/rccm.201707-1500imopenalex-snapshot
STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases
inferredcites →https://doi.org/10.1164/rccm.201906-1204leopenalex-snapshot
Successful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors
inferredcites →https://doi.org/10.1172/jci.insight.162695openalex-snapshot
A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice
inferredcites →https://doi.org/10.1177/1093526619890734openalex-snapshot
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation
inferredcites →https://doi.org/10.1182/blood-2014-04-570101openalex-snapshot
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
inferredcites →https://doi.org/10.1182/blood-2014-09-602763openalex-snapshot
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
inferredcites →https://doi.org/10.1186/s13075-015-0526-4openalex-snapshot
Peripheral blood CD4+CD25+CD127low regulatory T cells are significantly increased by tocilizumab treatment in patients with rheumatoid arthritis: increase in regulatory T cells correlates with clinical response
inferredcites →https://doi.org/10.18632/oncotarget.5042openalex-snapshot
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation
inferredcites →https://doi.org/10.2337/db16-0867openalex-snapshot
An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis
inferredcites →https://doi.org/10.3324/haematol.2018.202374openalex-snapshot
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression
inferredcites →https://doi.org/10.3389/fimmu.2020.620046openalex-snapshot
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia
inferredcites →https://doi.org/10.3389/fped.2017.00049openalex-snapshot
Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant
inferredcites →https://doi.org/10.4049/jimmunol.1401867openalex-snapshot
Mechanisms of Jak/STAT Signaling in Immunity and Disease
inferredcites →https://doi.org/10.4049/jimmunol.2100920openalex-snapshot
Cutting Edge: Systemic Autoimmunity in Murine STAT3 Gain-of-Function Syndrome Is Characterized by Effector T Cell Expansion in the Absence of Overt Regulatory T Cell Dysfunction
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4776231openalex-extracted
De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression
inferred← citeshttps://doi.org/10.1002/jpr3.12038openalex-snapshot
Intractable diarrhea in an infant—autoimmune enteropathy: A case report
inferred← citeshttps://doi.org/10.1002/mco2.70152openalex-snapshot
STAT3 Signaling Pathway in Health and Disease
inferred← citeshttps://doi.org/10.1002/pbc.31918openalex-snapshot
Early‐Onset Antibody‐Dependent Pure Red Cell Aplasia Associated With STAT3 Gain‐of‐Function
inferred← citeshttps://doi.org/10.1007/s12016-026-09202-1openalex-snapshot
Molecular Signature and miRNA Pattern of CD4 + T Lymphocytes in Plaque Psoriasis
inferred← citeshttps://doi.org/10.1016/j.autrev.2026.104086openalex-snapshot
Enteropathy in STAT3 GOF syndrome: Insights into the role of the JAK-STAT pathway
inferred← citeshttps://doi.org/10.1016/j.clim.2024.110312openalex-snapshot
A patient-based murine model recapitulates human STAT3 gain-of-function syndrome
inferred← citeshttps://doi.org/10.1016/j.iac.2026.06.010openalex-snapshot
Noninfectious Signs that an Inborn Error of Immunity Might Be Lurking Beneath
inferred← citeshttps://doi.org/10.1016/j.intimp.2024.112755openalex-snapshot
De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression
inferred← citeshttps://doi.org/10.1016/j.jaci.2024.11.022openalex-snapshot
Expanding the diagnostic toolbox for complex genetic immune disorders
inferred← citeshttps://doi.org/10.1016/j.jacig.2024.100312openalex-snapshot
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
inferred← citeshttps://doi.org/10.1016/j.mrrev.2025.108553openalex-snapshot
Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms
inferred← citeshttps://doi.org/10.1016/j.rdc.2023.07.001openalex-snapshot
Understanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders
inferred← citeshttps://doi.org/10.1016/s2588-932x(24)00123-2openalex-snapshot
Thérapie ciblée dans les maladies dysimmunitaires
inferred← citeshttps://doi.org/10.1038/s41368-025-00399-zopenalex-snapshot
JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities
inferred← citeshttps://doi.org/10.1053/j.semdp.2023.07.001openalex-snapshot
A personalized approach to lymphoproliferations in patients with inborn errors of immunity
inferred← citeshttps://doi.org/10.1055/a-2788-7908openalex-snapshot
Long-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation
inferred← citeshttps://doi.org/10.1080/1744666x.2025.2543475openalex-snapshot
The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies
inferred← citeshttps://doi.org/10.1080/21541264.2023.2294623openalex-snapshot
Transcription factors in the development and treatment of immune disorders
inferred← citeshttps://doi.org/10.1084/jem.20232091openalex-snapshot
A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice
inferred← citeshttps://doi.org/10.1093/immadv/ltad027openalex-snapshot
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function
inferred← citeshttps://doi.org/10.1097/aci.0000000000001039openalex-snapshot
STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders
inferred← citeshttps://doi.org/10.1097/mop.0000000000001401openalex-snapshot
Transplantation for immune dysregulatory disorders: current themes and future expectations
inferred← citeshttps://doi.org/10.1101/2023.08.29.554748openalex-snapshot
Atypical memory B cells form a pre-plasmacellular reservoir for steady-state IgD responses to common nasopharyngeal antigens
inferred← citeshttps://doi.org/10.1101/2024.12.12.626682openalex-snapshot
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome
inferred← citeshttps://doi.org/10.1111/1756-185x.70291openalex-snapshot
Baricitinib as a Steroid Sparing Agent to Curb the Immune Dysregulation Associated With Heterozygous STAT3 Mutations Causing Gain‐Of‐Function: A Case Report
inferred← citeshttps://doi.org/10.1136/bcr-2025-271007openalex-snapshot
STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy
inferred← citeshttps://doi.org/10.1159/000538364openalex-snapshot
Stat3 Regulates Developmental Hematopoiesis and Impacts Myeloid Cell Function via Canonical and Non-Canonical Modalities
inferred← citeshttps://doi.org/10.1172/jci.insight.202959openalex-snapshot
Impaired regulation by purinergic signaling axis contributes to CD8+ T cell dysregulation in STAT3 gain of function
inferred← citeshttps://doi.org/10.1186/s12969-024-00965-5openalex-snapshot
Th17/1 and ex-Th17 cells are detected in patients with polyarticular juvenile arthritis and increase following treatment
inferred← citeshttps://doi.org/10.21203/rs.3.rs-4181172/v1openalex-snapshot
De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression
inferred← citeshttps://doi.org/10.2147/itt.s582718openalex-snapshot
Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID
inferred← citeshttps://doi.org/10.2500/aap.2024.45.240070openalex-snapshot
Immunodeficiency: Overview of primary immune regulatory disorders (PIRDs)
inferred← citeshttps://doi.org/10.3389/falgy.2023.1237852openalex-snapshot
Transcription factor defects in inborn errors of immunity with atopy
inferred← citeshttps://doi.org/10.3389/fimmu.2023.1208567openalex-snapshot
Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment
inferred← citeshttps://doi.org/10.3389/fimmu.2023.1278759openalex-snapshot
Treg in inborn errors of immunity: gaps, knowns and future perspectives
inferred← citeshttps://doi.org/10.3389/fimmu.2025.1669688openalex-snapshot
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders
inferred← citeshttps://doi.org/10.3389/fimmu.2026.1726565openalex-snapshot
T-cell lymphoma-associated STAT3 variants impose a type 1 regulatory-like phenotype
inferred← citeshttps://doi.org/10.3389/fimmu.2026.1757562openalex-snapshot
Targeting the JAK/STAT pathway in atopic dermatitis
inferred← citeshttps://doi.org/10.3389/fimmu.2026.1824739openalex-snapshot
A case report of ADMIO type 1 caused by a de novo STAT3 gain-of-function mutation
inferred← citeshttps://doi.org/10.3389/fmed.2025.1643068openalex-snapshot
A case displaying the importance of JAK1 and JAK2 gene transcription in antifungal defense against coccidioidomycosis
inferred← citeshttps://doi.org/10.3389/fped.2025.1577746openalex-snapshot
Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review
inferred← citeshttps://doi.org/10.3390/biomedicines12010045openalex-snapshot
Signal Transducer and Activator of Transcription Proteins at the Nexus of Immunodeficiency, Autoimmunity and Cancer
inferred← citeshttps://doi.org/10.3390/ijms25189999openalex-snapshot
Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency
inferred← citeshttps://doi.org/10.3390/ijms27031230openalex-snapshot
Circulating Exosomal MicroRNA Profiles Associated with Heavy Metal Exposure and Short Stature in Children
inferred← citeshttps://doi.org/10.3390/pathogens13030259openalex-snapshot
Infections in Disorders of Immune Regulation
inferred← citeshttps://doi.org/10.36691/rja17082openalex-snapshot
Experience with rituximab in complex therapy of adult patients with common variable immunedeficiency with symptoms of immune dysregulation
inferred← citeshttps://doi.org/10.5409/wjcp.118174openalex-snapshot
Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician’s conundrum
inferred← citeshttps://doi.org/10.5409/wjcp.v14.i3.107165openalex-snapshot
Monogenic inflammatory bowel disease: An unfolding enigma
inferred← citeshttps://doi.org/10.6084/m9.figshare.25330838openalex-snapshot
Additional file 1 of Th17/1 and ex-Th17 cells are detected in patients with polyarticular juvenile arthritis and increase following treatment
inferred← citeshttps://doi.org/10.6084/m9.figshare.25330888openalex-snapshot
Additional file 2 of Th17/1 and ex-Th17 cells are detected in patients with polyarticular juvenile arthritis and increase following treatment
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