Article
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection.
eLife - 20 Jan 2015
MacDuff Donna A, Reese Tiffany A, Kimmey Jacqueline M, Weiss Leslie A, Song Christina, Zhang Xin, Kambal Amal, Duan Erning, Carrero Javier A, Boisson Bertrand, Laplantine Emmanuel, Israel Alain, Picard Capucine, Colonna Marco, Edelson Brian T, Sibley L David, Stallings Christina L, Casanova Jean-Laurent, Iwai Kazuhiro, Virgin Herbert W
Abstract excerpt
Variation in the presentation of hereditary immunodeficiencies may be explained by genetic or environmental factors. Patients with mutations in HOIL1 (RBCK1) present with amylopectinosis-associated myopathy with or without hyper-inflammation and immunodeficiency. We report that barrier-raised HOIL-1-deficient mice exhibit amylopectin-like deposits in the myocardium but show minimal signs of hyper-inflammation....
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