Case Reports

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report

Publisher's note
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.
Published: 3 July 2024
779
Views
478
Downloads
30
HTML

Authors

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 (STAT1) 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 (STAT1) gene mutation.

Downloads

Download data is not yet available.

Citations

Toubiana J, Okada S, Hiller J, et al. International STAT1 Gain-of-Function Study Group. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 2016;127:3154-64. DOI: https://doi.org/10.1182/blood-2015-11-679902
Puel A, Cypowyj S, Maródi L, et al. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012;12:616-22. DOI: https://doi.org/10.1097/ACI.0b013e328358cc0b
Chandesris MO, Melki I, Natividad A, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) 2012;91:e1-e19.
Van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011;365:54-61. DOI: https://doi.org/10.1056/NEJMoa1100102
Depner M, Fuchs S, Raabe J, et al. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. J Clin Immunol 2016;36:73-84. DOI: https://doi.org/10.1007/s10875-015-0214-9
Carey B, Lambourne J, Porter S, Hodgson T. Chronic mucocutaneous candidiasis due to gain- of-function mutation in STAT1. Oral Dis 2019;25:684-692. DOI: https://doi.org/10.1111/odi.12881
Boisson-Dupuis S, Kong XF, Okada S, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 2012;24:364-78. DOI: https://doi.org/10.1016/j.coi.2012.04.011
Okada S, Asano T, Moriya K, et al. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy. J Clin Immunol 2020;40:1065-1081. DOI: https://doi.org/10.1007/s10875-020-00847-x
Humbert L, Cornu M, Proust-Lemoine E, et al. Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. Front Immunol 2018;9:2570. DOI: https://doi.org/10.3389/fimmu.2018.02570
Plantinga TS, Johnson MD, Scott WK, et al. Human genetic susceptibility to Candida infections. Med Mycol 2012;50:785-94. 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;13:635-48. DOI: https://doi.org/10.1038/nri3493
National Library of Medicine. Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome. Available from https://www.ncbi.nlm.nih.gov/clinvar/RCV000133515/
National Library of Medicine. Immunodeficiency 31B. Available from https://www.ncbi.nlm.nih.gov/clinvar/RCV000698604/
Vasilev T, Johnson M, Yaneva N, et al. Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1. Available from https://abstracts.eurospe.org/hrp/0094/hrp0094p2-109
Eren Akarcan S, Ulusoy Severcan E, Edeer Karaca N. Gainof- Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports Immunol 2017;2017:2846928. DOI: https://doi.org/10.1155/2017/2846928
Soltész B, Tóth B, Shabashova N, et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 2013;50:567-78. DOI: https://doi.org/10.1136/jmedgenet-2013-101570

How to Cite



1.
Alakeel A, Nabil Nagshabandi K, Alsalhi A. Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report. Dermatol Reports [Internet]. 2024 Jul. 3 [cited 2026 May 26];16(4). Available from: https://journals.pagepress.net/dr/article/view/9939