Article
Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency.
The Pediatric infectious disease journal - 1 Apr 2016
Celmeli Fatih, Oztoprak Nefise, Turkkahraman Doga, Seyman Derya, Mutlu Esvet, Frede Natalie, Köksoy Sadi, Grimbacher Bodo
Abstract excerpt
Caspase-associated recruitment domain-9 (CARD9) deficiency is an autosomal-recessive primary immunodeficiency with genetic defects in Th17 immunity marked by susceptibility to recurrent and invasive Candida infections. We present a case of relapsing Candida albicans meningoencephalitis over 1-year period despite appropriate antifungal therapy. We detected a homozygous p.Q295X mutation in CARD9 as well as a...
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