Journal
CLINICAL INFECTIOUS DISEASES
Volume 59, Issue 1, Pages 81-84Publisher
OXFORD UNIV PRESS INC
DOI: 10.1093/cid/ciu215
Keywords
CARD9; spontaneous central nervous system candidiasis; Candida; GM-CSF; Th17
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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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