CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24704721.
- Also identified by DOI 10.1093/cid/ciu215 and PMC identifier 4305130.
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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.
Medical subject headings
- Adult
- CARD Signaling Adaptor Proteins/deficiency
- Candidiasis, Invasive/genetics
- Central Nervous System Fungal Infections/genetics
- Genetic Predisposition to Disease
- Granulocyte-Macrophage Colony-Stimulating Factor/administration & dosage
- Humans
- Immunologic Factors/administration & dosage
- Immunomodulation
- Male
- Treatment Outcome