Volume 16, Issue 4 (Volume 16, No 4 2026)
Dermatol Cosmet. 2026, 16(4): 235-246 |
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Ayatollahi A, Fattahi M. Chronic mucocutaneous candidiasis in inborn errors of immunity: a review of pathogenesis, diagnostic approaches, and emerging therapeutic strategies. Dermatol Cosmet. 2026; 16 (4) :235-246
URL: http://jdc.tums.ac.ir/article-1-5826-en.html
URL: http://jdc.tums.ac.ir/article-1-5826-en.html
1- Center for Research and Training in Skin Disease and Leprosy, Tehran University of Medical Sciences, Tehran, Iran
2- Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran ,dr.mahsafattahi@gmail.com
2- Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran ,
Abstract: (16 Views)
Chronic mucocutaneous candidiasis (CMC) is one of the major clinical manifestations observed in patients with inborn errors of immunity (IEIs), typically presenting as recurrent or persistent infections of the skin, nails, and mucosal surfaces. Recent advances in molecular genetics and next-generation sequencing (NGS) technologies have led to the identification of a broad spectrum of genetic defects associated with CMC and have significantly improved the understanding of antifungal immune mechanisms. Host defense against Candida species depends on the coordinated interaction between innate and adaptive immunity, and defects in fungal recognition, IL-17 signaling pathways, or Th17 cell development and function may predispose individuals to CMC. The most important genetic disorders associated with CMC include STAT1 gain-of-function mutations, STAT3 loss-of-function mutations, DOCK8 deficiency, APS-1/APECED, IL-17RA/RC and ACT1 deficiencies, and CARD9 deficiency. In addition to fungal infections, these disorders may also be associated with autoimmunity, allergic manifestations, malignancies, and multisystem involvement. Diagnosis of CMC requires comprehensive clinical evaluation, immunologic investigations including lymphocyte profiling, immunophenotyping, and assessment of Th17 function, followed by genetic testing, which remains the gold standard diagnostic approach. Management strategies include antifungal therapy as well as targeted immunomodulatory approaches such as JAK inhibitors, biologic therapies, and hematopoietic stem cell transplantation in selected patients. This review summarizes the pathogenic mechanisms, clinical and laboratory characteristics, diagnostic approaches, and emerging therapeutic strategies for CMC associated with inborn errors of immunity.
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