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

Clin Infect Dis. 2014 Jul 1;59(1):81-4. doi: 10.1093/cid/ciu215. Epub 2014 Apr 4.

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.

Keywords: CARD9; Candida; GM-CSF; Th17; spontaneous central nervous system candidiasis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • CARD Signaling Adaptor Proteins
  • CARD9 protein, human
  • Immunologic Factors
  • Granulocyte-Macrophage Colony-Stimulating Factor