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

Christina Gavino1, Anthony Cotter1, Daniel Lichtenstein1

  • 1Infectious Disease Susceptibility Program.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|April 8, 2014
PubMed

Insights

Caspase Recruitment Domain-containing protein 9 (CARD9) deficiency caused relapsing fungal meningoencephalitis. Adjunctive granulocyte-macrophage colony-stimulating factor (GM-CSF) therapy led to remission, highlighting a CARD9/GM-CSF axis in candidiasis susceptibility.

Area of Science:

  • Immunology
  • Infectious Diseases
  • Genetics

Background:

  • Recurrent invasive fungal infections can indicate primary immunodeficiency.
  • Caspase Recruitment Domain-containing protein 9 (CARD9) is crucial for antifungal immunity.

Observation:

  • A patient presented with relapsing Candida albicans meningoencephalitis.
  • Genetic analysis revealed a novel, hypomorphic CARD9 mutation.

Findings:

  • The patient exhibited intact T-helper 17 (Th17) responses but impaired granulocyte-macrophage colony-stimulating factor (GM-CSF) responses.
  • Complete clinical remission was achieved with adjunctive GM-CSF therapy.

Implications:

  • This case highlights a CARD9/GM-CSF axis in host defense against candidiasis.
  • GM-CSF therapy may be a viable treatment for CARD9-deficient patients with invasive fungal infections.
  • Understanding CARD9 function is critical for managing invasive fungal diseases.

Keywords:
CARD9CandidaGM-CSFTh17spontaneous central nervous system candidiasis

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