Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency

Pediatr Infect Dis J. 2016 Apr;35(4):428-31. doi: 10.1097/INF.0000000000001028.

Abstract

Caspase-associated recruitment domain-9 (CARD9) deficiency is an autosomal-recessive primary immunodeficiency with genetic defects in Th17 immunity marked by susceptibility to recurrent and invasive Candida infections. We present a case of relapsing Candida albicans meningoencephalitis over 1-year period despite appropriate antifungal therapy. We detected a homozygous p.Q295X mutation in CARD9 as well as a defective interleukin-17 and interferon gamma synthesis in Enzyme-Linked ImmunoSpot tests. We achieved complete clinical remission, and improvement of interleukin-17 secretion with subcutaneous granulocyte colony-stimulating factor) treatment.

Publication types

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

MeSH terms

  • Adult
  • Antibodies, Fungal / blood
  • Antibodies, Fungal / immunology
  • Antifungal Agents / therapeutic use
  • CARD Signaling Adaptor Proteins / deficiency*
  • Candida albicans*
  • Candidiasis, Invasive / drug therapy*
  • Candidiasis, Invasive / etiology*
  • Granulocyte Colony-Stimulating Factor / therapeutic use*
  • Homozygote
  • Humans
  • Interleukin-17 / blood
  • Lymphocyte Subsets / immunology
  • Lymphocyte Subsets / metabolism
  • Male
  • Meningoencephalitis / drug therapy*
  • Meningoencephalitis / etiology*
  • Mutation
  • Recurrence
  • Treatment Outcome

Substances

  • Antibodies, Fungal
  • Antifungal Agents
  • CARD Signaling Adaptor Proteins
  • CARD9 protein, human
  • Interleukin-17
  • Granulocyte Colony-Stimulating Factor