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

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

Boisson et al. report a human homozygous mutation of HOIP, the gene encoding the catalytic component of the linear ubiquitination chain assembly complex, LUBAC. The missense alleles impair the expression of HOIP, destabilizing the LUBAC complex and resulting in immune cell dysfunction leading to mul...

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Bibliographic Details
Main Authors: 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.
Format: Online
Language:English
Published: The Rockefeller University Press 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451137/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451137/

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