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CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.

ABSTRACT: 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.

SUBMITTER: Gavino C

PROVIDER: S-EPMC4305130 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature

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CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.

Gavino Christina C Cotter Anthony A Lichtenstein Daniel D Lejtenyi Duncan D Fortin Claude C Legault Catherine C Alirezaie Najmeh N Majewski Jacek J Sheppard Donald C DC Behr Marcel A MA Foulkes William D WD Vinh Donald C DC

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 20140404 1

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. ...[more]

PMID: 24704721

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