Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency
| Autor: | Natalie Frede, Bodo Grimbacher, Nefise Oztoprak, Derya Seyman, Doga Turkkahraman, Sadi Köksoy, Esvet Mutlu, Fatih Celmeli |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Microbiology (medical) Antifungal Agents 030106 microbiology Granulocyte 03 medical and health sciences Meningoencephalitis Recurrence Immunity Candida albicans Granulocyte Colony-Stimulating Factor medicine Humans Candidiasis Invasive Chronic mucocutaneous candidiasis Antibodies Fungal biology business.industry Homozygote Interleukin-17 medicine.disease biology.organism_classification Lymphocyte Subsets Granulocyte colony-stimulating factor CARD Signaling Adaptor Proteins Treatment Outcome 030104 developmental biology Infectious Diseases medicine.anatomical_structure Mutation Pediatrics Perinatology and Child Health Immunology Primary immunodeficiency Interleukin 17 business |
| Zdroj: | Pediatric Infectious Disease Journal. 35:428-431 |
| ISSN: | 0891-3668 |
| DOI: | 10.1097/inf.0000000000001028 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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