Ontology highlight
ABSTRACT:
SUBMITTER: MacDuff DA
PROVIDER: S-EPMC4298697 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
MacDuff Donna A DA Reese Tiffany A TA Kimmey Jacqueline M JM Weiss Leslie A LA Song Christina C Zhang Xin X Kambal Amal A Duan Erning E Carrero Javier A JA Boisson Bertrand B Laplantine Emmanuel E Israel Alain A Picard Capucine C Colonna Marco M Edelson Brian T BT Sibley L David LD Stallings Christina L CL Casanova Jean-Laurent JL Iwai Kazuhiro K Virgin Herbert W HW
eLife 20150120
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. However, they show immunodeficiency upon acute infection with Listeria monocytogenes, ...[more]