title: Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency.
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.
authors.affiliation: From the *Department of Pediatric Allergy-Immunology, †Department of Infectious Diseases and Clinical Microbiology, ‡Department of Pediatrics, Antalya Education and Research Hospital, Antalya, Turkey; §Department of Medical Microbiology, Akdeniz University Medical School Hospital, Antalya, Turkey; ¶Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; ‖DZIF-Standort Freiburg, Germany; and **Institute of Immunity and Transplantation, Royal Free Hospital, University College London, London, United Kingdom.
authors.forename: Fatih
authors.initials: F
authors.lastname: Celmeli
authors.forename: Nefise
authors.initials: N
authors.lastname: Oztoprak
authors.forename: Doga
authors.initials: D
authors.lastname: Turkkahraman
authors.forename: Derya
authors.initials: D
authors.lastname: Seyman
authors.forename: Esvet
authors.initials: E
authors.lastname: Mutlu
authors.forename: Natalie
authors.initials: N
authors.lastname: Frede
authors.forename: Sadi
authors.initials: S
authors.lastname: Köksoy
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
mesh_terms: D000328:Adult; D000908:Antibodies, Fungal / Q000097:blood / Q000276:immunology; D000935:Antifungal Agents / Q000627:therapeutic use; D053468:CARD Signaling Adaptor Proteins / Q000172:deficiency*; D002176:Candida albicans; D058365:Candidiasis, Invasive / Q000188:drug therapy* / Q000209:etiology*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006720:Homozygote; D006801:Humans; D020381:Interleukin-17 / Q000097:blood; D016131:Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D008297:Male; D008590:Meningoencephalitis / Q000188:drug therapy* / Q000209:etiology*; D009154:Mutation; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D000908:Antibodies, Fungal; D000935:Antifungal Agents; D053468:CARD Signaling Adaptor Proteins; C505855:CARD9 protein, human; D020381:Interleukin-17; D016179:Granulocyte Colony-Stimulating Factor