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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Detalles Bibliográficos
Autores principales: Oda, Hirotsugu, Beck, David B., Kuehn, Hye Sun, Sampaio Moura, Natalia, Hoffmann, Patrycja, Ibarra, Maria, Stoddard, Jennifer, Tsai, Wanxia Li, Gutierrez-Cruz, Gustavo, Gadina, Massimo, Rosenzweig, Sergio D., Kastner, Daniel L., Notarangelo, Luigi D., Aksentijevich, Ivona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431612/
https://www.ncbi.nlm.nih.gov/pubmed/30936877
http://dx.doi.org/10.3389/fimmu.2019.00479

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