Inherited CARD9 deficiency in 2 unrelated patients with invasive exophiala infection

Lanternier, F. and Barbati, E. and Meinzer, U. and Liu, L. and Pedergnana, V. and Migaud, M. and Héritier, S. and Chomton, M. and Frémond, M.-L. and Gonzales, E. and Galeotti, C. and Romana, S. and Jacquemin, E. and Angoulvant, A. and Bidault, V. and Canioni, D. and Lachenaud, J. and Mansouri, D. and Mahdaviani, S.A. and Adimi, P. and Mansouri, N. and Jamshidi, M. and Bougnoux, M.-E. and Abel, L. and Lortholary, O. and Blanche, S. and Casanova, J.-L. and Picard, C. and Puel, A. (2015) Inherited CARD9 deficiency in 2 unrelated patients with invasive exophiala infection. Journal of Infectious Diseases, 211 (8). pp. 1241-1250.


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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. © 2015 The Author. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved.

Item Type: Article
Additional Information: cited By 41
Subjects: WC Communicable Diseases
Depositing User: eprints admin
Date Deposited: 01 Jul 2018 05:10
Last Modified: 02 Feb 2020 10:22

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