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Novel CARD9 mutation in a patient with chronic invasive dermatophyte infection (tinea profunda)
Rosalynn M Nazarian1, Evelyn Lilly2, Christina Gavino3
1Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Insights
Caspase Recruitment Domain Family Member 9 (CARD9) deficiency causes susceptibility to invasive fungal infections. This case reveals novel CARD9 mutations in a patient with chronic dermatophytosis, highlighting CARD9
Area of Science:
- Immunology
- Medical Genetics
Background:
- Caspase Recruitment Domain Family Member 9 (CARD9) is a key adaptor protein in innate immunity, crucial for antifungal responses.
- Loss-of-function mutations in CARD9 lead to autosomal recessive susceptibility to invasive fungal infections, particularly in immunocompetent individuals.
Observation:
- A patient with X-linked ichthyosis presented with a chronic, decades-long invasive cutaneous dermatophyte infection.
- Genetic analysis identified a known (p.Y91H) and a novel intronic CARD9 mutation in the affected patient.
Findings:
- The identified CARD9 mutations were associated with recurrent, deep dermatophytosis despite extensive antifungal treatment.
- This case underscores the role of CARD9 deficiency in susceptibility to invasive dermatophytosis in non-immunosuppressed patients.
Implications:
- The findings expand the spectrum of CARD9 mutations associated with invasive fungal infections.
- Further research is needed to establish optimal therapeutic strategies for CARD9-deficient patients with deep dermatophytosis.
Abstract:
Caspase Recruitment Domain Family Member 9 (CARD9) is an adaptor molecule that drives antifungal activity of macrophages and neutrophils in the skin. Autosomal recessive loss-of-function mutations in CARD9 confer increased susceptibility to invasive disease with select fungi in non-immunosuppressed patients. We report on a patient with X-linked ichthyosis complicated by chronic cutaneous invasive dermatophyte infection. We identified a previously reported c.271T>C (p.Y91H) mutation and a novel intronic c.1269+18G>A mutation in CARD9 underlying recurrent deep dermatophytosis in this patient despite various antifungals for over three decades. Our case highlights susceptibility to invasive dermatophytosis related to autosomal recessive CARD9 deficiency and illustrates the range of CARD9 mutations to be pursued in immunocompetent patients with unexplained deep dermatophyte infections. Further studies are needed to define the best therapeutic regimen.
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