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
10.3389/fimmu.2019.00479
Front Immunol
2019 Mar 18;10:479.
cvid hoil1 hoip lubac sharpin autoinflammation primary immunodeficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/30936877/
Common Variable Immunodeficiency / genetics Gene Expression Regulation Inflammation / genetics Polymorphism, Single Nucleotide Transcriptome Ubiquitin-Protein Ligases / deficiency
Common Variable Immunodeficiency / genetics Gene Expression Regulation Inflammation / genetics Polymorphism, Single Nucleotide Transcriptome Ubiquitin-Protein Ligases / deficiency Case Reports Research Support, N.I.H., Intramural Alleles Alternative Splicing Child Common Variable Immunodeficiency / diagnosis Common Variable Immunodeficiency / immunology Cytokines / biosynthesis Cytokines / genetics Exons / genetics Female Heterozygote Humans Lymphangiectasis / genetics Lymphocyte Activation NF-kappa B / physiology Phenotype RNA, Messenger / biosynthesis RNA, Messenger / genetics Signal Transduction Transcription Factors / metabolism Ubiquitin-Protein Ligases / genetics Ubiquitin-Protein Ligases / metabolism Ubiquitin-Protein Ligases / physiology Ubiquitination / genetics Ubiquitins / metabolism Cytokines NF-kappa B RNA, Messenger SHARPIN protein, human Transcription Factors Ubiquitins RBCK1 protein, human RNF31 protein, human Ubiquitin-Protein Ligases
PMC6431612
30936877
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC
2019