Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report
https://doi.org/10.4081/dr.2024.9939
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail and mucous membrane infections with Candida species, typically Candida albicans. Signal transducer and activator of transcription 1 (STAT 1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT 1) gene mutation.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. PMID: 27114460; PMCID: PMC4920021. DOI: https://doi.org/10.1182/blood-2015-11-679902
Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):616-22. doi: 10.1097/ACI.0b013e328358cc0b. PMID: 23026768; PMCID: PMC3538358. DOI: https://doi.org/10.1097/ACI.0b013e328358cc0b
Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, Thumerelle C, Oksenhendler E, Boutboul D, Thomas C, Hoarau C, Lebranchu Y, Stephan JL, Cazorla C, Aladjidi N, Micheau M, Tron F, Baruchel A, Barlogis V, Palenzuela G, Mathey C, Dominique S, Body G, Munzer M, Fouyssac F, Jaussaud R, Bader-Meunier B, Mahlaoui N, Blanche S, Debré M, Le Bourgeois M, Gandemer V, Lambert N, Grandin V, Ndaga S, Jacques C, Harre C, Forveille M, Alyanakian MA, Durandy A, Bodemer C, Suarez F, Hermine O, Lortholary O, Casanova JL, Fischer A, Picard C. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012 Jul;91(4):e1-e19. doi: 10.1097/MD.0b013e31825f95b9. PMID: 22751495; PMCID: PMC3680355. DOI: https://doi.org/10.1097/MD.0b013e31825f95b9
van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29. PMID: 21714643. DOI: https://doi.org/10.1056/NEJMoa1100102
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25. PMID: 26604104; PMCID: PMC4718942.
Carey B, Lambourne J, Porter S, Hodgson T. Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8. PMID: 29702748. DOI: https://doi.org/10.1111/odi.12881
Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, Casanova JL. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012 Aug;24(4):364-78. doi: 10.1016/j.coi.2012.04.011. Epub 2012 May 30. PMID: 22651901; PMCID: PMC3477860. DOI: https://doi.org/10.1016/j.coi.2012.04.011
Okada S, Asano T, Moriya K, Boisson-Dupuis S, Kobayashi M, Casanova JL, Puel A. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy. J Clin Immunol. 2020 Nov;40(8):1065-1081. doi: 10.1007/s10875-020-00847-x. Epub 2020 Aug 27. PMID: 32852681; PMCID: PMC8561788. DOI: https://doi.org/10.1007/s10875-020-00847-x
Humbert L, Cornu M, Proust-Lemoine E, Bayry J, Wemeau JL, Vantyghem MC, Sendid B. Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. Front Immunol. 2018 Nov 19;9:2570. doi: 10.3389/fimmu.2018.02570. PMID: 30510552; PMCID: PMC6254185. DOI: https://doi.org/10.3389/fimmu.2018.02570
Plantinga TS, Johnson MD, Scott WK, Joosten LA, van der Meer JW, Perfect JR, Kullberg BJ, Netea MG. Human genetic susceptibility to Candida infections. Med Mycol. 2012 Nov;50(8):785-94. doi: 10.3109/13693786.2012.690902. Epub 2012 Jun 4. PMID: 22662758; PMCID: PMC5826648. DOI: https://doi.org/10.3109/13693786.2012.690902
Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013 Sep;13(9):635-48. doi: 10.1038/nri3493. Epub 2013 Jul 26. PMID: 23887241. DOI: https://doi.org/10.1038/nri3493
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25. PMID: 26604104; PMCID: PMC4718942. DOI: https://doi.org/10.1007/s10875-015-0214-9
https://www.ncbi.nlm.nih.gov/clinvar/RCV000133515/
https://www.ncbi.nlm.nih.gov/clinvar/RCV000698604/
https://abstracts.eurospe.org/hrp/0094/hrp0094p2-109
Eren Akarcan S, Ulusoy Severcan E, Edeer Karaca N, Isik E, Aksu G, Migaud M, Evin Gurkan F, Azarsiz E, Puel A, Casanova JL, Kutukculer N. Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports Immunol. 2017;2017:2846928. doi: 10.1155/2017/2846928. Epub 2017 Nov 13. PMID: 29259832; PMCID: PMC5702932. DOI: https://doi.org/10.1155/2017/2846928
Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24. PMID: 23709754; PMCID: PMC3756505. DOI: https://doi.org/10.1136/jmedgenet-2013-101570
Copyright (c) 2024 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
Downloads
Citations
