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

Bertrand Boisson,Emmanuel Laplantine,Carolina Prando,Silvia Giliani,Elisabeth Israelsson,Zhaohui Xu,Avinash Abhyankar,Laura Israel,Giraldina Trevejo-Nunez,Dusan Bogunovic,Alma-Martina Cepika,Donna A. MacDuff,Maya Chrabieh,Marjorie Hubeau,Fanny Bajolle,Marianne Debré,Evelina Mazzolari,Donatella Vairo,Fabrice Agou,Herbert W. Virgin,Xavier Bossuyt,C. Rambaud,Fabio Facchetti,Damien Bonnet,Pierre Quartier,Jean-Christophe Fournet,Virginia Pascual,Damien Chaussabel,Luigi D. Notarangelo,Anne Puel,Alain Israël,Jean-Laurent Casanova,Capucine Picard

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

2012

The linear ubiquitination complex (LUBAC) is poorly understood in humans. Casanova and colleagues identify natural mutations in a component of human LUBAC and use this to dissect its function in vivo and in vitro.

Keywords:

Interleukin-1beta
Immunology
Biology
Hereditary Autoinflammatory Diseases
Immunodeficiency
Immunologic Deficiency Syndromes
Genetics

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