A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections

Chronic mucocutaneous candidiasis leads to persistent or recurrent fungal infections of the nail, skin, oral, and genital mucosa. Impaired interleukin 17-mediated immunity is a cause of chronic mucocutaneous candidiasis. We aimed to show the pathogenicity of a novel interleukin 17 receptor A mutatio...

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Bibliographic Details
Published in:	Turkish archives of pediatrics Vol. 58; no. 4; pp. 442 - 447
Main Authors:	Yakıcı, Nalan, Oskay Halaçlı, Sevil, Tan, Çağman, Gür Çetinkaya, Pınar, Akar, Halil T, Çavdarlı, Büşra, Özbek, Begüm, Çağdaş, Deniz, Tezcan, İlhan
Format:	Journal Article
Language:	English
Published:	Turkey Turkish Pediatrics Association 01-07-2023
Subjects:	Case-Based Review
Online Access:	Get full text
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Summary:	Chronic mucocutaneous candidiasis leads to persistent or recurrent fungal infections of the nail, skin, oral, and genital mucosa. Impaired interleukin 17-mediated immunity is a cause of chronic mucocutaneous candidiasis. We aimed to show the pathogenicity of a novel interleukin 17 receptor A mutation through functional studies. After next-generation sequencing analysis showed the interleukin 17 receptor A variant, we confirmed the variant by Sanger sequencing and functional validation of the variant by flow cytometry. We present the case of a 6-year-old male patient who presented with recurrent oral and genital Candida infections and eczema. He had staphylococcal skin lesions, fungal susceptibility, and eczema. The patient carried a novel homozygous nonsense [(c.787C> T) (p.Arg263Ter)] mutation in the interleukin 17 receptor A gene. Sanger sequencing confirmed the variant and revealed the segregation of the variant in the family. We used flow cytometry to detect interleukin 17 receptor A protein expression in peripheral blood mononuclear cells from patients and measured Th17 cell percentage. We observed low interleukin 17 receptor A protein expression in patient peripheral blood mononuclear cells, decreased CD4+ interleukin 17+ cell percentage, and decreased interleukin 17F expression in CD4+ cells compared to healthy controls. Innate immune defects may lead to chronic recurrent fungal and bacterial infections of the skin, mucosa, and nails. Generally, genetic and functional analysis is needed in addition to basic immunological tests.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Cite this article as: Yakıcı N, Oskay Halaçlı S, Tan Ç, et al. A novel interleukin 17 receptor A mutation in a child with chronic mucocutaneous candidiasis and staphylococcal skin infections. Turk Arch Pediatr. 2023;58(4):442-447.
ISSN:	2757-6256 2757-6256
DOI:	10.5152/TurkArchPediatr.2023.22311