CARD9 Deficiency and Spontaneous Central Nervous System Candidiasis: Complete Clinical Remission With GM-CSF Therapy | Zendy

Christina Gavino | Zendy; Amanda Cotter | Zendy; Daniel A. Lichtenstein | Zendy; Duncan Lejtenyi | Zendy; Claude Fortin | Zendy; C. LEGAULT | Zendy; Najmeh Alirezaie | Zendy; Jacek Majewski | Zendy; Donald C. Sheppard | Zendy; Marcel A. Behr | Zendy; William D. Foulkes | Zendy; Donald C. Vinh | Zendy

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CARD9 Deficiency and Spontaneous Central Nervous System Candidiasis: Complete Clinical Remission With GM-CSF Therapy

Author(s) -

Christina Gavino,

Amanda Cotter,

Daniel A. Lichtenstein,

Duncan Lejtenyi,

Claude Fortin,

C. LEGAULT,

Najmeh Alirezaie,

Jacek Majewski,

Donald C. Sheppard,

Marcel A. Behr,

William D. Foulkes,

Donald C. Vinh

Publication year - 2014

Publication title -

clinical infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.44

H-Index - 336

eISSN - 1537-6591

pISSN - 1058-4838

DOI - 10.1093/cid/ciu215

Subject(s) - medicine , meningoencephalitis , central nervous system , candida albicans , immunology , genetics , biology

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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