Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.

ABSTRACT:

Purpose

Inborn errors of the IL-17A/F-responsive pathway lead to chronic mucocutaneous candidiasis (CMC) as a predominant clinical phenotype, without other significant clinical manifestations apart from mucocutaneous staphylococcal diseases. Among inborn errors affecting IL-17-dependent immunity, autosomal recessive (AR) IL-17RC deficiency is a rare disease with only three kindreds described to date. The lack of an in vitro functional evaluation system of IL17RC variants renders its diagnosis difficult. We sought to characterize a 7-year-old Japanese girl with CMC carrying a novel homozygous duplication variant of IL17RC and establish a simple in vitro system to evaluate the impact of this variant.

Methods

Flow cytometry, qPCR, RNA-sequencing, and immunoblotting were conduct

SUBMITTER: Noma K 

PROVIDER: S-EPMC10807285 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature