Research & Literature

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

Zheng J, van de Veerdonk FL, Crossland KL, et al.

European journal of immunology 2015; (45(10)):2834-46 doi:10.1002/eji.201445344.

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.

Martinez-Martinez L, Martinez-Saavedra MT, Fuentes-Prior P, et al.

Molecular immunology 2015; (68(2 Pt C)):597-605.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M, Fuchs S, Raabe J, et al.

Journal of clinical immunology 2016; (36(1)):73-84 doi:10.1007/s10875-015-0214-9.

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.

Dhalla F, Fox H, Davenport EE, et al.

Clinical and experimental immunology 2016; (184(2)):216-27 doi:10.1111/cei.12746.

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

Dotta L, Scomodon O, Padoan R, et al.

Clinical immunology (Orlando, Fla.) 2016; (164()):1-9.

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease.

Dotta L, Scomodon O, Padoan R, et al.

Data in brief 2016; (7()):311-5 doi:10.1016/j.dib.2016.02.040.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, et al.

Blood 2016; (127(25)):3154-64 doi:10.1182/blood-2015-11-679902.

Treatment options for chronic mucocutaneous candidiasis.

van de Veerdonk FL, Netea MG

The Journal of infection 2016; (72 Suppl()):S56-60.

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.

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Kagawa R, Fujiki R, Tsumura M, et al.

The Journal of allergy and clinical immunology 2017; (140(1)):232-241 doi:10.1016/j.jaci.2016.09.035.

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Okada S, Puel A, Casanova JL, Kobayashi M

Clinical & translational immunology 2016; (5(12)):e114 doi:10.1038/cti.2016.71.

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Weinacht KG, Charbonnier LM, Alroqi F, et al.

The Journal of allergy and clinical immunology 2017; (139(5)):1629-1640.e2 doi:10.1016/j.jaci.2016.11.022.

Gain-of-function STAT1 mutations are associated with intracranial aneurysms.

Dadak M, Jacobs R, Skuljec J, et al.

Clinical immunology (Orlando, Fla.) 2017; (178()):79-85 doi:10.1016/j.clim.2017.01.012.

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

Eslami N, Tavakol M, Mesdaghi M, et al.

Acta microbiologica et immunologica Hungarica 2017; (64(2)):191-201 doi:10.1556/030.64.2017.014.

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Leiding JW, Okada S, Hagin D, et al.

The Journal of allergy and clinical immunology 2018; (141(2)):704-717.e5 doi:10.1016/j.jaci.2017.03.049.

Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.

Zimmerman O, Rosen LB, Swamydas M, et al.

Frontiers in immunology 2017; (8()):820 doi:10.3389/fimmu.2017.00820.

Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation.

Koo S, Kejariwal D, Al-Shehri T, et al.

United European gastroenterology journal 2017; (5(5)):625-631 doi:10.1177/2050640616684404.

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.

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.

Bloomfield M, Kanderová V, Paračková Z, et al.

Journal of clinical immunology 2018; (38(5)):589-601 doi:10.1007/s10875-018-0519-6.

Evaluating a voriconazole dose modification guideline to optimize dosing in patients with hematologic malignancies.

Perreault S, McManus D, Anderson A, et al.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2019; (25(6)):1305-1311 doi:10.1177/1078155218786028.

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea.

Huh HJ, Jhun BW, Choi SR, et al.

Yonsei medical journal 2018; (59(8)):1004-1007 doi:10.3349/ymj.2018.59.8.1004.

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

Kiykim A, Charbonnier LM, Akcay A, et al.

Journal of clinical immunology 2019; (39(1)):37-44 doi:10.1007/s10875-018-0575-y.

Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.

Kaleviste E, Saare M, Leahy TR, et al.

European journal of immunology 2019; (49(5)):790-800 doi:10.1002/eji.201847955.

Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation.

van Zelm MC, Bosco JJ, Aui PM, et al.

Frontiers in immunology 2019; (10()):768 doi:10.3389/fimmu.2019.00768.

Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.

Petersen J, Staab J, Bader O, et al.

Molecular immunology 2019; (114()):30-40 doi:10.1016/j.molimm.2019.07.008.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Zimmerman O, Olbrich P, Freeman AF, et al.

Frontiers in immunology 2019; (10()):1433 doi:10.3389/fimmu.2019.01433.

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.

Lee PP, Lao-Araya M, Yang J, et al.

Frontiers in immunology 2019; (10()):2189 doi:10.3389/fimmu.2019.02189.

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation.

Moriya K, Suzuki T, Uchida N, et al.

International journal of hematology 2020; (112(2)):258-262 doi:10.1007/s12185-020-02860-7.

Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation.

Erdős M, Jakobicz E, Soltész B, et al.

Frontiers in immunology 2020; (11()):967 doi:10.3389/fimmu.2020.00967.

Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.

Giovannozzi S, Lemmens V, Hendrix J, et al.

Frontiers in immunology 2020; (11()):1114 doi:10.3389/fimmu.2020.01114.

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S, Asano T, Moriya K, et al.

Journal of clinical immunology 2020; (40(8)):1065-1081 doi:10.1007/s10875-020-00847-x.

Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male.

Yu Y, Xu F, Shen H, Wu J

BMC infectious diseases 2021; (21(1)):38 doi:10.1186/s12879-020-05734-9.

Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings.

Takeda MR, Bansal M, Kamerman-Kretzmer RJ, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2021; (24(2)):131-136 doi:10.1177/1093526620985950.

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.

Kayaoglu B, Kasap N, Yilmaz NS, et al.

Journal of clinical immunology 2021; (41(4)):769-779 doi:10.1007/s10875-020-00943-y.

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W, Chen X, Gao G, et al.

Frontiers in immunology 2021; (12()):654406 doi:10.3389/fimmu.2021.654406.

Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.

Blanco Lobo P, Lei WT, Pelham SJ, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021; (32(8)):1804-1812 doi:10.1111/pai.13603.

DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.

Scott O, Dadi H, Vong L, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022; (33(1)):e13694 doi:10.1111/pai.13694.

Consensus guidelines for optimising antifungal drug delivery and monitoring to avoid toxicity and improve outcomes in patients with haematological malignancy and haemopoietic stem cell transplant recipients, 2021.

Chau MM, Daveson K, Alffenaar JC, et al.

Internal medicine journal 2021; (51 Suppl 7()):37-66 doi:10.1111/imj.15587.

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

Deyà-Martínez A, Rivière JG, Roxo-Junior P, et al.

Journal of clinical immunology 2022; (42(5)):1071-1082 doi:10.1007/s10875-022-01257-x.

Gain-of-function STAT1 mutation and visceral leishmaniasis.

Lyra PT, Falcão ACAM, Cruz RA, et al.

Einstein (Sao Paulo, Brazil) 2022; (20()):eRC0048 doi:10.31744/einstein_journal/2022RC0048.

Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation.

Lu X, Zhang K, Jiang W, et al.

Frontiers in immunology 2022; (13()):988766 doi:10.3389/fimmu.2022.988766.

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy.

Cao B, Liu M, Zhao Y, Gong C

Frontiers in pediatrics 2022; (10()):1001290 doi:10.3389/fped.2022.1001290.

Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility.

Parackova Z, Zentsova I, Vrabcova P, et al.

Clinical immunology (Orlando, Fla.) 2023; (246()):109174 doi:10.1016/j.clim.2022.109174.

Case report: Myocarditis in congenital STAT1 gain-of function.

Staels F, Roosens W, Giovannozzi S, et al.

Frontiers in immunology 2023; (14()):1095595 doi:10.3389/fimmu.2023.1095595.

Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome.

Largent AD, Lambert K, Chiang K, et al.

Science translational medicine 2023; (15(703)):eade7028 doi:10.1126/scitranslmed.ade7028.

Utility of triazole antifungal therapeutic drug monitoring: Insights from the Society of Infectious Diseases Pharmacists: Endorsed by the Mycoses Study Group Education and Research Consortium.

McCreary EK, Davis MR, Narayanan N, et al.

Pharmacotherapy 2023; (43(10)):1043-1050 doi:10.1002/phar.2850.

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.

Too much of a good thing: a review of primary immune regulatory disorders.

Tsilifis C, Slatter MA, Gennery AR

Frontiers in immunology 2023; (14()):1279201 doi:10.3389/fimmu.2023.1279201.

Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF.

Koh JY, Kim DR, Son S, et al.

Journal of clinical immunology 2024; (44(4)):84 doi:10.1007/s10875-024-01687-9.

Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.

Chen R, Mu H, Chen X, et al.

Journal of clinical immunology 2024; (44(5)):124 doi:10.1007/s10875-024-01720-x.

Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.

Luo M, Huang H, Nie H, et al.

Mycopathologia 2024; (190(1)):3 doi:10.1007/s11046-024-00912-8.

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.

Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections.

Sparanese S, Brager R, Fahmy D, Garkaby J

Endocrinology, diabetes & metabolism case reports 2025; (2025(3)).

A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.

Martinsen KHB, Øverland T, Stray-Pedersen A, et al.

Frontiers in immunology 2025; (16()):1620291 doi:10.3389/fimmu.2025.1620291.

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.

Xiang Y, Sun S, Wang H, et al.

Journal of clinical immunology 2025; (45(1)):137.

Abundant Yet Aberrant T Helper Cell Responses to Candida albicans Underlie Mucosal Candidiasis in Humans and Mice.

Basso C, De Gregorio C, Marzi R, et al.

European journal of immunology 2025; (55(10)):e70065 doi:10.1002/eji.70065.

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.

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Buddingh EP, Slatter M, Becerra JCA, et al.

Journal of human immunity 2025; (1(3)) doi:10.70962/jhi.20250027.

The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.

Torrance R, McKenna AJ, King C, et al.

Frontiers in immunology 2025; (16()):1717692 doi:10.3389/fimmu.2025.1717692.

Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report.

Arslan S, Sert A, Özçelik M, et al.

Journal of clinical immunology 2026; (46(1)).

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.

Mild Phenotype in Functionally Validated STAT1 Gain-of-Function Disease Due to a Novel DNA-Binding Variant.

Duran BC, Aytekin C, Tsumura M, et al.

Scandinavian journal of immunology 2026; (104(4)):e70154 doi:10.1111/sji.70154.

Hyperactive STAT1 promotes Tfh1-cell differentiation to trigger autoimmunity.

Chen R, Chen X, Yang J, et al.

The Journal of allergy and clinical immunology 2026; doi:10.1016/j.jaci.2026.08.030.

Clinical manifestations of patients with STAT1 gain-of-function variants in Mexico.

Cova-Guzmán TL, Okada S, Tsumura M, et al.

Frontiers in immunology 2026; (17()):1986964 doi:10.3389/fimmu.2026.1986964.