Research & Literature

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

Ling Y, Cypowyj S, Aytekin C, et al.

The Journal of experimental medicine 2015; (212(5)):619-31 doi:10.1084/jem.20141065.

The Evolving View of IL-17-Mediated Immunity in Defense Against Mucocutaneous Candidiasis in Humans.

Soltész B, Tóth B, Sarkadi AK, et al.

International reviews of immunology 2015; (34(4)):348-63 doi:10.3109/08830185.2015.1049345.

IL-17-Mediated Immunity to the Opportunistic Fungal Pathogen Candida albicans.

Conti HR, Gaffen SL

Journal of immunology (Baltimore, Md. : 1950) 2015; (195(3)):780-8 doi:10.4049/jimmunol.1500909.

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.

Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians.

Gavino C, Hamel N, Zeng JB, et al.

The Journal of allergy and clinical immunology 2016; (137(4)):1178-1188.e7 doi:10.1016/j.jaci.2015.09.016.

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.

Antibody blockade of IL-17 family cytokines in immunity to acute murine oral mucosal candidiasis.

Whibley N, Tritto E, Traggiai E, et al.

Journal of leukocyte biology 2016; (99(6)):1153-64 doi:10.1189/jlb.4A0915-428R.

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.

Clonal Strain Persistence of Candida albicans Isolates from Chronic Mucocutaneous Candidiasis Patients.

Moorhouse AJ, Rennison C, Raza M, et al.

PloS one 2016; (11(2)):e0145888 doi:10.1371/journal.pone.0145888.

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.

Alves de Medeiros AK, Lodewick E, Bogaert DJ, et al.

Journal of clinical immunology 2016; (36(3)):204-9 doi:10.1007/s10875-016-0255-8.

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.

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.

Bruserud Ø, Oftedal BE, Landegren N, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(8)):2975-83 doi:10.1210/jc.2016-1821.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Lévy R, Okada S, Béziat V, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(51)):E8277-E8285 doi:10.1073/pnas.1618300114.

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.

A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies.

Aldave Becerra JC, Cachay Rojas E

Frontiers in pediatrics 2017; (5()):55 doi:10.3389/fped.2017.00055.

Chronic Candidiasis in Children.

Green L, Dolen WK

Current allergy and asthma reports 2017; (17(5)):31 doi:10.1007/s11882-017-0699-9.

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.

CMCD: Chronic Mucocutaneous Candidiasis Disease.

Okada S

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology 2017; (40(2)):109-117 doi:10.2177/jsci.40.109.

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.

Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1.

Bruserud Ø, Bratland E, Hellesen A, et al.

Frontiers in immunology 2017; (8()):1074 doi:10.3389/fimmu.2017.01074.

The Role of IL-17 in Protection against Mucosal Candida Infections.

Mengesha BG, Conti HR

Journal of fungi (Basel, Switzerland) 2017; (3(4)) doi:10.3390/jof3040052.

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.

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

Corvilain E, Casanova JL, Puel A

Journal of clinical immunology 2018; (38(6)):656-693 doi:10.1007/s10875-018-0539-2.

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.

Immunologic characterization of patients with chronic mucocutaneous candidiasis disease.

Khalsa KK, Yang Q, Shen X, et al.

Clinical case reports 2019; (7(1)):180-185 doi:10.1002/ccr3.1946.

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.

Bhattad S, Dinakar C, Pinnamaraju H, et al.

Journal of clinical immunology 2019; (39(6)):596-599 doi:10.1007/s10875-019-00664-x.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Al Shehri T, Gilmour K, Gothe F, et al.

Journal of clinical immunology 2019; (39(8)):776-785 doi:10.1007/s10875-019-00687-4.

A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions.

Martin S, Balligand E, Peeters J, et al.

Open forum infectious diseases 2019; (6(11)):ofz229 doi:10.1093/ofid/ofz229.

Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia!

Escudier A, Giabicani E, Neven B, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020; (27(2)):104-106 doi:10.1016/j.arcped.2019.12.006.

Molecular mechanism of azoles resistant Candida albicans in a patient with chronic mucocutaneous candidiasis.

Zhang MR, Zhao F, Wang S, et al.

BMC infectious diseases 2020; (20(1)):126 doi:10.1186/s12879-020-4856-8.

Human inborn errors of immunity underlying superficial or invasive candidiasis.

Puel A

Human genetics 2020; (139(6-7)):1011-1022 doi:10.1007/s00439-020-02141-7.

Persistence of Clonal Azole-Resistant Isolates of Candida albicans from a Patient with Chronic Mucocutaneous Candidiasis in Colombia.

Ceballos-Garzon A, Wintaco-Martínez LM, Velez N, et al.

Journal of global infectious diseases 2020; (12(1)):16-20 doi:10.4103/jgid.jgid_74_19.

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.

A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.

Yan Z, Gang X, Xie X, et al.

Medicine 2020; (99(18)):e20000 doi:10.1097/MD.0000000000020000.

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.

Phase I EnACT Trial of the Safety and Tolerability of a Novel Oral Formulation of Amphotericin B.

Skipper CP, Atukunda M, Stadelman A, et al.

Antimicrobial agents and chemotherapy 2020; (64(10)) doi:10.1128/AAC.00838-20.

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

Fierabracci A, Arena A, Toto F, et al.

Journal of endocrinological investigation 2021; (44(4)):661-677 doi:10.1007/s40618-020-01376-5.

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.

Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1.

Lima Ferreira J, Simões de Carvalho F, Marques AP, Príncipe RM

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

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.

Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.

Egri N, Esteve-Solé A, Deyà-Martínez À, et al.

Allergologia et immunopathologia 2021; (49(1)):118-127 doi:10.15586/aei.v49i1.20.

Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.

Stadler PC, Renner ED, Milner J, Wollenberg A

The journal of allergy and clinical immunology. In practice 2021; (9(4)):1501-1507 doi:10.1016/j.jaip.2021.01.037.

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.

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Marujo F, Pelham SJ, Freixo J, et al.

Journal of clinical immunology 2021; (41(6)):1376-1379 doi:10.1007/s10875-021-01026-2.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

Sanjeevi A, Asirvatham AR, Balachandran K, Mahadevan S

BMJ case reports 2021; (14(4)) doi:10.1136/bcr-2021-241680.

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.

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, et al.

Journal of clinical immunology 2021; (41(8)):1804-1838 doi:10.1007/s10875-021-01086-4.

Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Kubala SA, Do HM, Ferré EMN, et al.

Respiratory medicine case reports 2021; (33()):101476 doi:10.1016/j.rmcr.2021.101476.

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Philippot Q, Casanova JL, Puel A

Current opinion in immunology 2021; (72()):318-323 doi:10.1016/j.coi.2021.08.001.

[CARD9 Mutation in a Patient with Candida albicans Meningoencephalitis; A Case Report].

Kuruoğlu T, Çelik M, Çelmeli F, Tanyel E

Mikrobiyoloji bulteni 2021; (55(4)):656-664 doi:10.5578/mb.20219717.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Ferré EMN, Schmitt MM, Lionakis MS

Frontiers in pediatrics 2021; (9()):723532 doi:10.3389/fped.2021.723532.

Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1.

Jacobson JD, Broussard JR, Marsh C, Newell B

Case reports in endocrinology 2021; (2021()):6009141 doi:10.1155/2021/6009141.

Chronic mucocutaneous candidiasis.

Hon-Balla B, Erdős M

Orvosi hetilap 2022; (163(5)):171-180 doi:10.1556/650.2022.32409.

Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient - A Case Report.

Balasundaram A, George R, Abraham A, Michael JS

Indian dermatology online journal 2022; (13(1)):90-93 doi:10.4103/idoj.IDOJ_898_20.

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.

Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.

Desai JV, Urban A, Swaim DZ, et al.

Antimicrobial agents and chemotherapy 2022; (66(7)):e0030822 doi:10.1128/aac.00308-22.

Chronic Mucocutaneous Candidiasis: A Case Report.

Wang Z, Zhang Y, Ma W

Clinical, cosmetic and investigational dermatology 2023; (16()):231-236 doi:10.2147/CCID.S396802.

The Th17/IL-17 Axis and Host Defense Against Fungal Infections.

Tangye SG, Puel A

The journal of allergy and clinical immunology. In practice 2023; (11(6)):1624-1634 doi:10.1016/j.jaip.2023.04.015.

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.

Noma K, Tsumura M, Nguyen T, et al.

Research square 2023; doi:10.21203/rs.3.rs-3062583/v1.

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.

Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature

Şimşek E, Şimşek T, Çilingir O

Journal of clinical research in pediatric endocrinology 2025; (17(3)):359-364 doi:10.4274/jcrpe.galenos.2023.2023-9-17.

Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.

Staines-Boone AT, Vignesh P, Tsumura M, et al.

Journal of clinical immunology 2023; (44(1)):20 doi:10.1007/s10875-023-01634-0.

Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.

Brenchley L, Ferré EMN, Schmitt MM, et al.

Frontiers in dental medicine 2021; (2()) doi:10.3389/fdmed.2021.670624.

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.

Refractory mediastinal pyogenic lymphadenitis in a patient with chronic mucocutaneous candidiasis.

Watanabe R, Wakatsuki R, Nishiyama Y, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2025; (31(10)):102796 doi:10.1016/j.jiac.2025.102796.

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

Blanco-Lobo P, Gilabert-Prieto P, de Felipe B, et al.

Journal of clinical immunology 2025; (45(1)):167.

Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.

Molnár E, Kovács G, Tahami F, et al.

The journal of allergy and clinical immunology. Global 2026; (5(2)):100603 doi:10.1016/j.jacig.2025.100603.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.

Baioumi A, Darma K, Selvarajan L, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(4)):396-405 doi:10.1515/jpem-2025-0522.

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)).

Approach to the patient with APS-1/APECED.

Webb T, Pechacek J, Lionakis MS

The Journal of clinical endocrinology and metabolism 2026; doi:10.1210/clinem/dgag282.

Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.

Ferré EM, Pechacek J, Schmitt MM, et al.

JCI insight 2026; (11(14)).

From Validation to Clinical Interpretation: A Flow Cytometric Th17-Cell Assay for STAT1- and STAT3-Related Inborn Errors of Immunity.

Toft MJ, Sørensen CD, Christiansen M, et al.

Scandinavian journal of immunology 2026; (104(2)):e70140 doi:10.1111/sji.70140.