article_metadata: 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
article_metadata: 10.3389/fimmu.2019.00479
article_metadata: Front Immunol
article_metadata: 2019 Mar 18;10:479.
article_metadata: cvid hoil1 hoip lubac sharpin autoinflammation primary immunodeficiency
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30936877/
article_metadata: Common Variable Immunodeficiency / genetics Gene Expression Regulation Inflammation / genetics Polymorphism, Single Nucleotide Transcriptome Ubiquitin-Protein Ligases / deficiency
article_metadata: 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
article_metadata: PMC6431612
article_metadata: 30936877
article_metadata: Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC
article_metadata: 2019