Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-κB signaling and thus proper innate and adaptive immunity. To date only one patient with HOIP deficiency has been reported with clinical characteristics that include autoinf...

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Bibliographic Details
Main Authors: Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Immunology
Subjects:
LUBAC
HOIP
HOIL1
SHARPIN
primary immunodeficiency
autoinflammation
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.00479/full

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