A young girl with severe cerebral fungal infection due to card 9 deficiency


Cetinkaya P. G., Ayvaz D. N., KARAATMACA B., GÖÇMEN R., Soylemezoglu F., Bainter W., ...More

CLINICAL IMMUNOLOGY, vol.191, pp.21-26, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 191
  • Publication Date: 2018
  • Doi Number: 10.1016/j.clim.2018.01.002
  • Journal Name: CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.21-26
  • Keywords: CARD9 deficiency, NLRP12, Fungal infection, Central nervous system infection, INNATE ANTIFUNGAL IMMUNITY, CANDIDA-ALBICANS, PRIMARY IMMUNODEFICIENCIES, HOST-DEFENSE, MENINGOENCEPHALITIS, CLASSIFICATION, VORICONAZOLE, PHENYTOIN, MUTATIONS, DISEASES
  • Hacettepe University Affiliated: Yes

Abstract

Pattern recognition receptors (PRRs), receptors of the innate immune system, are important in interaction with pathogens. Caspase Recruitment Domain-containing protein 9 (CARD9), a member of PRRs, is an intracellular adaptor protein important in fungal defense. CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. We report a 17 year-old female with a homozygous nonsense mutation in CARD9, who presented with severe cerebral fungal infection of the central nervous system. She was also found to have an heterozygous NLRP12 mutation, which may have had add-on effect on the severity of the infection. (C) 2018 Published by Elsevier Inc.