Journal
PEDIATRIC INFECTIOUS DISEASE JOURNAL
Volume 35, Issue 4, Pages 428-431Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/INF.0000000000001028
Keywords
CARD9 deficiency; chronic mucocutaneous candidiasis; G-CSF treatment
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Funding
- Bundesministerium fur Bildung und Forschung (BMBF) [IFB/CCI: 01EO1303, DZIF: 8000805-3]
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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.
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