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Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation
- Source :
- Frontiers in Immunology, Vol 12 (2021), Frontiers in Immunology
- Publication Year :
- 2021
- Publisher :
- Frontiers Media S.A., 2021.
-
Abstract
- Chronic mucocutaneous candidiasis (CMC) is a disorder of recurrent or persistent chronic noninvasive symptomatic infections of the skin, nails and mucous membranes. This disorder is primarily caused by Candida albicans. Many factors, including primary immunodeficiencies, can make a host more susceptible to CMC. Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are the most common genetic etiologies of CMC. We describe a case of CMC with disseminated Talaromyces marneffei infection caused by a new pathogenic Y287N mutation at amino acid 287 in the coiled-coiled domain of STAT1, which was identified using whole-exome sequencing. Position 287 might be a hot spot for missense mutations because several amino acid substitutions were found there. Flow cytometry suggested that the Y287N mutation might reduce the expression of IL-17 of Th17 cells in peripheral blood mononuclear cells stimulated by phorbol myristate acetate and ionomycin. The STAT1 Y287N GOF mutation may be the direct cause of recurrent cutaneous and mucosal candidiasis, including the T. marneffei infection in this patient.
- Subjects :
- 0301 basic medicine
Immunology
chronic mucocutaneous candidiasis
Case Report
medicine.disease_cause
gain-of-function mutation
Peripheral blood mononuclear cell
Flow cytometry
primary immune deficiency
03 medical and health sciences
0302 clinical medicine
STAT1
medicine
Immunology and Allergy
Missense mutation
Chronic mucocutaneous candidiasis
Candida albicans
Mutation
biology
medicine.diagnostic_test
business.industry
Talaromyces marneffei
RC581-607
biology.organism_classification
medicine.disease
030104 developmental biology
biology.protein
STAT protein
Immunologic diseases. Allergy
business
030215 immunology
Subjects
Details
- Language :
- English
- ISSN :
- 16643224
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Frontiers in Immunology
- Accession number :
- edsair.doi.dedup.....9ca641c2c6eb2ccb71034ed847e8ad10