Article
CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America - 1 Jul 2014
Gavino Christina, Cotter Anthony, Lichtenstein Daniel, Lejtenyi Duncan, Fortin Claude, Legault Catherine, Alirezaie Najmeh, Majewski Jacek, Sheppard Donald C, Behr Marcel A, Foulkes William D, Vinh Donald C
Abstract excerpt
We demonstrate autosomal-recessive Caspase Recruitment Domain-containing protein 9 (CARD9) deficiency in a patient with relapsing C. albicans meningoencephalitis. We identified a novel, hypomorphic mutation with intact Th17 responses, but impaired GM-CSF responses. We report complete clinical remission with adjunctive GM-CSF therapy, suggesting that a CARD9/GM-CSF axis contributes to susceptibility to candidiasis.
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