Article
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
Journal of clinical immunology - 1 Feb 2022
Goel Shubham, Kuehn Hye Sun, Chinen Javier, Niemela Julie, Stoddard Jennifer, Yamanaka Daisuke, Garofalo Mary, Samir Sophia, Migaud Melanie, Oikonomou Vasileios, Fleisher Thomas, Puel Anne, Lionakis Michail S, Rosenzweig Sergio D
Abstract excerpt
BACKGROUND: CARD9 deficiency is an autosomal recessive primary immunodeficiency underlying increased susceptibility to fungal infection primarily presenting as invasive CNS Candida and/or cutaneous/invasive dermatophyte infections. More recently, a rare heterozygous dominant negative CARD9 variant c.1434 + 1G > C was reported to be protective from inflammatory bowel disease. OBJECTIVE: We studied two siblings...
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