Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

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Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

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Title: Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Author: Boisson, Bertrand; Laplantine, Emmanuel; Prando, Carolina; Giliani, Silvia; Israelsson, Elisabeth; Xu, Zhaohui; Abhyankar, Avinash; Israël, Laura; Trevejo-Nunez, Giraldina; Bogunovic, Dusan; Cepika, Alma-Martina; MacDuff, Donna; Chrabieh, Maya; Hubeau, Marjorie; Bajolle, Fanny; Debré, Marianne; Mazzolari, Evelina; Vairo, Donatella; Agou, Fabrice; Virgin, Herbert W.; Bossuyt, Xavier; Rambaud, Caroline; Facchetti, Fabio; Bonnet, Damien; Quartier, Pierre; Fournet, Jean-Christophe; Pascual, Virginia; Chaussabel, Damien; Notarangelo, Luigi D.; Puel, Anne; Israël, Alain; Casanova, Jean-Laurent; Picard, Capucine

Note: Order does not necessarily reflect citation order of authors.

Citation: Boisson, B., E. Laplantine, C. Prando, S. Giliani, E. Israelsson, Z. Xu, A. Abhyankar, et al. 2012. “Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.” Nature immunology 13 (12): 1178-1186. doi:10.1038/ni.2457. http://dx.doi.org/10.1038/ni.2457.
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Abstract: We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic auto-inflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in HOIL1, a component the linear ubiquitination chain assembly complex (LUBAC). These mutations resulted in impairment of LUBAC stability. NF-κB activation in response to interleukin-1β (IL-1β) was compromised in the patients’ fibroblasts. By contrast, the patients’ mononuclear leukocytes, particularly monocytes, were hyperresponsive to IL-1β. The consequences of human HOIL-1 and LUBAC deficiencies for IL-1β responses thus differed between cell types, consistent with the unique association of auto-inflammation and immunodeficiency in these patients. These data suggest that LUBAC regulates NF-κB-dependent IL-1β responses differently in different cell types.
Published Version: doi:10.1038/ni.2457
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514453/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11708667
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