Research & Literature

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Lorenzini T, Dotta L, Giacomelli M, et al.

Journal of leukocyte biology 2017; (101(1)):29-38 doi:10.1189/jlb.5RI0516-237RR.

[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].

Ding Y, Zhang Y, Wang YP, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(1)):30-36 doi:10.3760/cma.j.issn.0578-1310.2017.01.006.

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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Sediva H, Dusatkova P, Kanderova V, et al.

Hormone research in paediatrics 2017; (88(2)):160-166 doi:10.1159/000456544.

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, Schipp C, Miskin H, et al.

Clinical immunology (Orlando, Fla.) 2017; (181()):32-42 doi:10.1016/j.clim.2017.05.021.

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders.

Consonni F, Dotta L, Todaro F, et al.

Current opinion in pediatrics 2017; (29(6)):711-717 doi:10.1097/MOP.0000000000000551.

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.

Gutiérrez M, Scaglia P, Keselman A, et al.

Molecular and cellular endocrinology 2018; (473()):166-177 doi:10.1016/j.mce.2018.01.016.

Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Nunes-Santos CJ, Rosenzweig SD

Frontiers in immunology 2018; (9()):1423 doi:10.3389/fimmu.2018.01423.

STAT1 and STAT3 mutations: important lessons for clinical immunologists.

Olbrich P, Freeman AF

Expert review of clinical immunology 2018; (14(12)):1029-1041 doi:10.1080/1744666X.2018.1531704.

Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review.

Fabre A, Marchal S, Barlogis V, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(6)):1958-1969.e9 doi:10.1016/j.jaip.2019.02.018.

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Jägle S, Heeg M, Grün S, et al.

Clinical immunology (Orlando, Fla.) 2020; (210()):108316 doi:10.1016/j.clim.2019.108316.

STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection.

Gonzalez-Mancera MS, Johnson B, Mirsaeidi M

Respiratory medicine case reports 2020; (30()):101125 doi:10.1016/j.rmcr.2020.101125.

Activating mutations of STAT3: Impact on human growth.

Gutiérrez M

Molecular and cellular endocrinology 2020; (518()):110979 doi:10.1016/j.mce.2020.110979.

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L, López-Nevado M, Paz-Artal E, et al.

Critical reviews in clinical laboratory sciences 2021; (58(4)):253-274 doi:10.1080/10408363.2020.1855623.

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K, Sakura F, Nambu R, et al.

Journal of clinical immunology 2021; (41(4)):780-790 doi:10.1007/s10875-021-00975-y.

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, Goda R, Schiavo E, et al.

Frontiers in immunology 2020; (11()):620046 doi:10.3389/fimmu.2020.620046.

Pulmonary Histopathology Findings in Patients With STAT3 Gain of Function Syndrome.

Cortes-Santiago N, Forbes L, Vogel TP, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2021; (24(3)):227-234 doi:10.1177/1093526620980615.

Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.

Wang W, Liu L, Hui X, et al.

BMC immunology 2021; (22(1)):19 doi:10.1186/s12865-021-00411-1.

Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype.

Erdős M, Tsumura M, Kállai J, et al.

Clinical and experimental immunology 2021; (205(3)):354-362 doi:10.1111/cei.13625.

Phenotypes of STAT3 gain-of-function variant related to disruptive regulation of CXCL8/STAT3, KIT/STAT3, and IL-2/CD25/Treg axes.

Marega LF, Sabino JS, Pedroni MV, et al.

Immunologic research 2021; (69(5)):445-456 doi:10.1007/s12026-021-09225-0.

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.

López-Nevado M, González-Granado LI, Ruiz-García R, et al.

Frontiers in immunology 2021; (12()):671755 doi:10.3389/fimmu.2021.671755.

Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.

Gothe F, Gehrig J, Rapp CK, et al.

Pediatric pulmonology 2021; (56(12)):3934-3941 doi:10.1002/ppul.25684.

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16+ Monocytes and CD141+ Dendritic Cells.

Korenfeld D, Roussak K, Dinkel S, et al.

Journal of immunology (Baltimore, Md. : 1950) 2021; (207(10)):2423-2432 doi:10.4049/jimmunol.2000841.

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Deng M, Li Y, Li Y, et al.

Frontiers in immunology 2022; (13()):866638 doi:10.3389/fimmu.2022.866638.

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.

Woods J, Pemberton SE, Largent AD, et al.

Journal of immunology (Baltimore, Md. : 1950) 2022; (209(6)):1033-1038 doi:10.4049/jimmunol.2100920.

A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice.

Schmitt EG, Toth KA, Risma SI, et al.

JCI insight 2022; (7(21)).

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.

Moser LM, Fekadu J, Willasch A, et al.

British journal of haematology 2023; (200(5)):595-607 doi:10.1111/bjh.18497.

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Leiding JW, Vogel TP, Santarlas VGJ, et al.

The Journal of allergy and clinical immunology 2023; (151(4)):1081-1095 doi:10.1016/j.jaci.2022.09.002.

STAT3 gain-of-function syndrome.

Vogel TP, Leiding JW, Cooper MA, Forbes Satter LR

Frontiers in pediatrics 2022; (10()):770077 doi:10.3389/fped.2022.770077.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

Fischer M, Olbrich P, Hadjadj J, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):275-286.e18 doi:10.1016/j.jaci.2023.10.018.

Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity.

Baumgartner F, Bamopoulos SA, Faletti L, et al.

Science signaling 2024; (17(824)):eadc9662 doi:10.1126/scisignal.adc9662.

A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.

Zhou Q, Chen D, Yu J, et al.

Molecular genetics & genomic medicine 2024; (12(2)):e2407 doi:10.1002/mgg3.2407.

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.

Atschekzei F, Traidl S, Carlens J, et al.

Frontiers in immunology 2024; (15()):1400348 doi:10.3389/fimmu.2024.1400348.

Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure.

Saito K, Fujimoto M, Funajima E, et al.

The journal of allergy and clinical immunology. Global 2024; (3(4)):100312 doi:10.1016/j.jacig.2024.100312.

Inborn errors of immunity and invasive fungal infections: presentation and management.

Paccoud O, Warris A, Puel A, Lanternier F

Current opinion in infectious diseases 2024; (37(6)):464-473 doi:10.1097/QCO.0000000000001062.

Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity.

Davidson HR, Jamal L, Mueller R, et al.

Social science & medicine (1982) 2024; (360()):117303 doi:10.1016/j.socscimed.2024.117303.

STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.

Olbrich P, Freeman AF

Current opinion in allergy and clinical immunology 2024; (24(6)):440-447 doi:10.1097/ACI.0000000000001039.

Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease.

Bayram Catak F, Catak MC, Babayeva R, et al.

The Journal of allergy and clinical immunology 2025; (155(3)):784-791 doi:10.1016/j.jaci.2024.11.032.

Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls.

Lopes da Silva VG, Schmitz GJH, Sullivan KE, et al.

Frontiers in immunology 2025; (16()):1538453 doi:10.3389/fimmu.2025.1538453.

Dominant-Negative Versus Gain-of-Function STAT3 Defects: A Systematic Review on Epidemiological, Clinical, Immunological, and Molecular Aspects.

Hajialigol A, Azizi G, Seifi Alan M, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(6)):1440-1448.e4 doi:10.1016/j.jaip.2025.04.014.

Endocrinopathies in children with inborn errors of immunity: a single-center experience.

Buyukyilmaz G, Toksoy Adiguzel K, Kocaay P, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(7)):735-742 doi:10.1515/jpem-2024-0593.

Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review.

Zhou P, Zhu M, Pan Y, et al.

Frontiers in pediatrics 2025; (13()):1577746 doi:10.3389/fped.2025.1577746.

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Yaakoubi R, Mekki N, Ben Chehida A, et al.

Frontiers in immunology 2025; (16()):1646761 doi:10.3389/fimmu.2025.1646761.

Tregopathy in focus.

Iyengar VV, Gowri V, Chougule AS, et al.

Frontiers in immunology 2025; (16()):1658140 doi:10.3389/fimmu.2025.1658140.

STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy.

Desoki R, Barreda S, Khwaja S, Parkes M

BMJ case reports 2026; (19(1)) doi:10.1136/bcr-2025-271007.

Reduction in mucosal phosphorylated STAT3 under therapy with JAK inhibitor in STAT3 gain of function mutation - a case study.

Oberli R, Mookhoek A, Denier D, et al.

Virchows Archiv : an international journal of pathology 2026; doi:10.1007/s00428-026-04409-1.

Disease-causing STAT3 variants can be discriminated by a functional flow cytometry test.

Esteve-Sole A, Freeman AF, Hsu A, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(2)):e70300 doi:10.1111/pai.70300.

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.

Aydin S, Oz A, Kalkan T, et al.

Klinische Padiatrie 2026; doi:10.1055/a-2788-7908.

Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.

Hwang J, Situ B, Naderi A, Lee SY

American journal of ophthalmology case reports 2026; (42()):102540 doi:10.1016/j.ajoc.2026.102540.

From CVID to PIRD: Genetic Testing Leading to Signal Transducer and Activator of Transcription 3 Gain-of-Function Diagnosis and Directed Therapy.

Lang A, Agharahimi A, Vogel TP, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1506-1514 doi:10.1016/j.jaip.2026.03.041.

Guidance on JAK inhibitor treatment for inborn errors of JAK-STAT signaling, 2026: International consensus statement on behalf of the European Society for Immunodeficiencies/European Society for Blood and Marrow Transplantation-Inborn Errors Working Party and ERN-RITA.

Olbrich P, Fischer M, Deyà-Martinez Á, et al.

The Journal of allergy and clinical immunology 2026; (158(2)):598-609.e5 doi:10.1016/j.jaci.2026.05.005.

ALPS-like Disorder Linked with STAT3 Mutation: De novo Variant with Bicytopenia and Literature Review.

Mohammadi A, Esfahani ZH, Abolhassani H, et al.

Endocrine, metabolic & immune disorders drug targets 2026; (26()):e18715303470784 doi:10.2174/0118715303470784260605093400.

Janus Kinase Inhibitors in Treatment of Primary Immune Regulatory Disorders.

Alsaati NF, Satter LF

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1491-1503 doi:10.1016/j.jaip.2026.05.019.