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Case Reports
. 2020 Feb;47(2):166-170.
doi: 10.1111/cup.13574. Epub 2019 Oct 29.

Novel CARD9 mutation in a patient with chronic invasive dermatophyte infection (tinea profunda)

Rosalynn M Nazarian  1 , Evelyn Lilly  2 , Christina Gavino  3 , Daniel L Hamilos  4 , Donna Felsenstein  5 , Donald C Vinh  3 , Paul B Googe  6
Affiliations
Case Reports

Novel CARD9 mutation in a patient with chronic invasive dermatophyte infection (tinea profunda)

Rosalynn M Nazarian et al. J Cutan Pathol. 2020 Feb.

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.

Keywords: CARD9; deep dermatophytosis; tinea profunda.

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References

REFERENCES

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