Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.

ABSTRACT:

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

SUBMITTER: Lanternier F 

PROVIDER: S-EPMC4447834 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature