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

@article{Gavino2014CARD9DA,
  title={CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.},
  author={Christina Gavino and Anthony Cotter and Daniel Lichtenstein and Duncan Lejtenyi and Claude Fortin and Catherine Legault and Najmeh Alirezaie and Jacek Majewski and Donald C Sheppard and Marcel A. Behr and William D Foulkes and Donald C Vinh},
  journal={Clinical infectious diseases : an official publication of the Infectious Diseases Society of America},
  year={2014},
  volume={59 1},
  pages={81-4}
}
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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