• Fanny Lanternier, Elisa Barbati, Ulrich Meinzer, Luyan Liu, Vincent Pedergnana, Mélanie Migaud, Sébastien Héritier, Maryline Chomton, Marie-Louise Frémond, Emmanuel Gonzales, Caroline Galeotti, Serge Romana, Emmanuel Jacquemin, Adela Angoulvant, Valeska Bidault, Danielle Canioni, Julie Lachenaud, Davood Mansouri, Seyed Alireza Mahdaviani, Parvaneh Adimi, Nahal Mansouri, Mahin Jamshidi, Marie-Elisabeth Bougnoux, Laurent Abel, Olivier Lortholary, Stéphane Blanche, Jean-Laurent Casanova, Capucine Picard, and Anne Puel.
• Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 Paris Descartes University-Sorbonne Paris Cité, Imagine Institute Department of Infectious Diseases, Necker-Enfants malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Centre d'Infectiologie Necker Pasteur.
• J. Infect. Dis. 2015 Apr 15; 211 (8): 1241-50.

BackgroundExophiala 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.MethodsWe 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.ResultsWe 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.ConclusionsThese 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.© The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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