Abstract:
: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, Toxoplasma gondii or Citrobacter rodentium. Increased susceptibility to Listeria was due to HOIL-1 function in hematopoietic cells and macrophages in production of protective cytokines. In contrast, HOIL-1-deficient mice showed enhanced control of chronic Mycobacterium tuberculosis or murine γ-herpesvirus 68 (MHV68), and these infections conferred a hyper-inflammatory phenotype. Surprisingly, chronic infection with MHV68 complemented the immunodeficiency of HOIL-1, IL-6, Caspase-1 and Caspase-1;Caspase-11-deficient mice following Listeria infection. Thus chronic herpesvirus infection generates signs of auto-inflammation and complements genetic immunodeficiency in mutant mice, highlighting the importance of accounting for the virome in genotype-phenotype studies.
journal_name
Elifejournal_title
eLifeauthors
MacDuff DA,Reese TA,Kimmey JM,Weiss LA,Song C,Zhang X,Kambal A,Duan E,Carrero JA,Boisson B,Laplantine E,Israel A,Picard C,Colonna M,Edelson BT,Sibley LD,Stallings CL,Casanova JL,Iwai K,Virgin HWdoi
10.7554/eLife.04494subject
Has Abstractpub_date
2015-01-20 00:00:00issn
2050-084Xjournal_volume
4pub_type
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