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Functional Defect of Neutrophils Causing Dermatophytosis: Case Report
Rosemeire N Constantino-Silva1, Sandro F Perazzio2,3, Nicolas de Albuquerque Weidebach1
1Clinical Immunology, Faculdade de Medicina, Centro Universitario Saude ABC, Andre 09060-870, Brazil.
Journal of Fungi (Basel, Switzerland)
|October 27, 2020
Summary
This study identifies genetic variants in NADPH-oxidase and myeloperoxidase (MPO) linked to recurrent fungal infections. These findings suggest a potential cause for chronic dermatophytosis in patients with impaired intracellular microorganism destruction.
Area of Science:
- Immunology
- Genetics
Background:
- NADPH-oxidase and myeloperoxidase (MPO) are crucial for combating microbial pathogens.
- Defects in these systems are linked to recurrent infections by bacteria like Staphylococcus aureus and fungi such as Candida albicans.
Observation:
- A 58-year-old male presented with a 20-year history of superficial fungal infections (dermatophytosis) unresponsive to treatment.
- Mycological examination identified Trichophyton rubrum.
- Immunological tests revealed impaired T cell proliferation and neutrophil oxidative burst response to Candida albicans.
Findings:
- Whole exome sequencing identified two heterozygous variants: MPO A332V and NCF1 G83R.
- Functional leukocyte evaluation indicated impaired intracellular microorganism destruction.
Implications:
- These genetic defects in MPO and NCF1 may predispose individuals to chronic dermatophytosis.
- The study highlights the importance of evaluating these genetic factors in recurrent fungal infections.
- A new screening method for individuals with yeast infections has been developed.
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