AI Article Synopsis
- The study focuses on a patient with a new heterozygous missense mutation that leads to chronic mucocutaneous candidiasis (CMC) along with other symptoms like recurrent pneumonia and skin issues resembling rosacea.
- Genetic analysis using next-generation sequencing helped identify the novel mutation (c.884C>A), classified as a gain-of-function variant.
- The findings suggest that this mutation is associated with both CMC and a new phenotype of rosacea-like demodicosis, indicating a need to recognize this skin condition in patients with similar genetic mutations.
Article Abstract
Purpose: Heterozygous missense mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.
Methods: Genetic analysis targeted next-generation sequencing (NGS; NGS panel DIPAI v.1) exploring the 98 genes most frequently involved in primary immunodeficiencies, including , was performed to identify an underlying genetic defect.
Results: NGS identified a novel variant of , c.884C>A (exon 10), p.T295Y, not previously described. This variant was found to be gain of function using an luciferase reporter assay. Rosacea-like demodicosis was confirmed by substantial proliferation observed the microscopic examination of a cutaneous sample. A review of literature retrieved 20 other cases of GOF mutations associated with early-onset rosacea-like demodicosis, most with ocular involvement.
Conclusion: We describe a new GOF mutation associated with a phenotype of CMC and rosacea-like demodicosis. Rosacea-like demodicosis appears as a novel and important clinical phenotype among patients with GOF mutation.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721043 | PMC |
| http://dx.doi.org/10.3389/fimmu.2021.760019 | DOI Listing |
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