Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A...

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Библиографические подробности
Опубликовано в: :J Exp Med
Главные авторы: Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G.W., Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D.
Формат: Artigo
Язык:Inglês
Опубликовано: The Rockefeller University Press 2015
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4451137/
https://ncbi.nlm.nih.gov/pubmed/26008899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20141130
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