title: Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.
abstract: Transcriptomics, the high-throughput characterization of RNAs, has been instrumental in defining pathogenic signatures in human autoimmunity and autoinflammation. It enabled the identification of new therapeutic targets in IFN-, IL-1- and IL-17-mediated diseases. Applied to immunomonitoring, transcriptomics is starting to unravel diagnostic and prognostic signatures that stratify patients, track molecular changes associated with disease activity, define personalized treatment strategies, and generally inform clinical practice. Herein, we review the use of transcriptomics to define mechanistic, diagnostic, and predictive signatures in human autoimmunity and autoinflammation. We discuss some of the analytical approaches applied to extract biological knowledge from high-dimensional data sets. Finally, we touch upon emerging applications of transcriptomics to study eQTLs, B and T cell repertoire diversity, and isoform usage.
authors.affiliation: Baylor Institute for Immunology Research, Dallas, Texas 75204; email: romain.banchereau@bswhealth.org , almamartina.cepika@bswhealth.org , virginia.pascual@bswhealth.org.
authors.forename: Romain
authors.initials: R
authors.lastname: Banchereau
authors.affiliation: Baylor Institute for Immunology Research, Dallas, Texas 75204; email: romain.banchereau@bswhealth.org , almamartina.cepika@bswhealth.org , virginia.pascual@bswhealth.org.
authors.forename: Alma-Martina
authors.initials: AM
authors.lastname: Cepika
authors.affiliation: The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06030; email: jacques.banchereau@jax.org.
authors.forename: Jacques
authors.initials: J
authors.lastname: Banchereau
authors.affiliation: Baylor Institute for Immunology Research, Dallas, Texas 75204; email: romain.banchereau@bswhealth.org , almamartina.cepika@bswhealth.org , virginia.pascual@bswhealth.org.
authors.forename: Virginia
authors.initials: V
authors.lastname: Pascual
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000276:immunology; D066264:Datasets as Topic; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007249:Inflammation / Q000175:diagnosis* / Q000276:immunology; D016247:Information Storage and Retrieval; D058990:Molecular Targeted Therapy; D015166:Monitoring, Immunologic; D011379:Prognosis; D059467:Transcriptome
keywords: autoimmunity; autoinflammation; mechanisms; patient stratification; therapeutic targets; transcriptomics