Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.
نویسندگان
چکیده
BACKGROUND Exophiala species are mostly responsible for skin infections. Invasive Exophiala dermatitidis disease is a rare and frequently fatal infection, with 42 cases reported. About half of these cases had no known risk factors. Similarly, invasive Exophiala spinifera disease is extremely rare, with only 3 cases reported, all in patients with no known immunodeficiency. Autosomal recessive CARD9 deficiency has recently been reported in otherwise healthy patients with severe fungal diseases caused by Candida species, dermatophytes, or Phialophora verrucosa. METHODS We investigated an 8-year-old girl from a nonconsanguineous Angolan kindred, who was born in France and developed disseminated E. dermatitidis disease and a 26 year-old woman from an Iranian consaguineous kindred, who was living in Iran and developed disseminated E. spinifera disease. Both patients were otherwise healthy. RESULTS We sequenced CARD9 and found both patients to be homozygous for loss-of-function mutations (R18W and E323del). The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of the maternal CARD9 mutated allele. CONCLUSIONS These are the first 2 patients with inherited CARD9 deficiency and invasive Exophiala disease to be described. CARD9 deficiency should thus be considered in patients with unexplained invasive Exophiala species disease, even in the absence of other infections.
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1 Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, The Netherlands 2 Department of Experimental Immunology, Academic Medical Center, Amsterdam 3 Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg 4 Division of Pediatric Endocrinology, Centre Hospitalier de Luxembourg, Luxembourg 5 Division of Cell Biology, Dutch Cancer In...
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ورودعنوان ژورنال:
- The Journal of infectious diseases
دوره 211 8 شماره
صفحات -
تاریخ انتشار 2015