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

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 i...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3514453/
https://ncbi.nlm.nih.gov/pubmed/23104095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ni.2457
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