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

doi:10.1084/jem.20141130

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Article

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

The Journal of experimental medicine - 1 Jun 2015

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

Abstract excerpt

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 patient with multiorgan autoinflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic...

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PMID: 26008899
DOI: 10.1084/jem.20141130
PMCID: PMC4451137

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