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

CELMELI F., OZTOPRAK N., TURKKAHRAMAN D., SEYMAN D., MUTLU E., Frede N., ...Daha Fazla

The Pediatric infectious disease journal, cilt.35, sa.4, ss.428-31, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1097/inf.0000000000001028
  • Dergi Adı: The Pediatric infectious disease journal
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.428-31
  • Anahtar Kelimeler: CARD9 deficiency, chronic mucocutaneous candidiasis, G-CSF treatment, CHRONIC MUCOCUTANEOUS CANDIDIASIS, COMPLETE CLINICAL REMISSION, CSF THERAPY, INFECTION, PATHOGENS, RESPONSES, MUTATION, HUMANS
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.