Genomics of Immune Diseases and New Therapies
Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening up new fields of investigation throughout research and clinical medicine. Genomics coupled with biochemical investigation has allowed the mol...
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Published in | Annual review of immunology Vol. 34; no. 1; pp. 121 - 149 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
United States
Annual Reviews
20.05.2016
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Subjects | |
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Abstract | Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening up new fields of investigation throughout research and clinical medicine. Genomics coupled with biochemical investigation has allowed the molecular definition of a growing number of new genetic diseases that reveal new concepts of immune regulation. Also, defining the genetic pathogenesis of these diseases has led to improved diagnosis, prognosis, genetic counseling, and, most importantly, new therapies. We highlight the investigational journey from patient phenotype to treatment using the newly defined XMEN disease, caused by the genetic loss of the MAGT1 magnesium transporter, as an example. This disease illustrates how genomics yields new fundamental immunoregulatory insights as well as how research genomics is integrated into clinical immunology. At the end, we discuss two other recently described diseases, CHAI/LATAIE (CTLA-4 deficiency) and PASLI (PI3K dysregulation), as additional examples of the journey from unknown immunological diseases to new precision medicine treatments using genomics. |
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AbstractList | Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening up new fields of investigation throughout research and clinical medicine. Genomics coupled with biochemical investigation has allowed the molecular definition of a growing number of new genetic diseases that reveal new concepts of immune regulation. Also, defining the genetic pathogenesis of these diseases has led to improved diagnosis, prognosis, genetic counseling, and, most importantly, new therapies. We highlight the investigational journey from patient phenotype to treatment using the newly defined XMEN disease, caused by the genetic loss of the MAGT1 magnesium transporter, as an example. This disease illustrates how genomics yields new fundamental immunoregulatory insights as well as how research genomics is integrated into clinical immunology. At the end, we discuss two other recently described diseases, CHAI/LATAIE (CTLA-4 deficiency) and PASLI (PI3K dysregulation), as additional examples of the journey from unknown immunological diseases to new precision medicine treatments using genomics. Genomic DNA sequencing technologies have been one of the great advances of the 21st century – decreasing in cost by 7 orders of magnitude and opening up new fields of investigation throughout research and clinical medicine. Genomics coupled with biochemical investigation has allowed the molecular definition of a growing number of new genetic diseases that reveal new concepts of immune regulation. Also, defining the genetic pathogenesis of these diseases has led to improved diagnosis, prognosis, genetic counseling, and, most importantly, new therapies. We highlight the investigational journey from patient phenotype to treatment using the newly defined XMEN disease caused by the genetic loss of the MAGT1 magnesium transporter. This disease illustrates how genomics yields new fundamental immunoregulatory insights as well as how research genomics is integrated into clinical immunology. At the end, we discuss two other recently described diseases: PASLI (PI3K dysregulation) and CHAI/LATAIE (CTLA-4 deficiency) that show journeys from unknown immunological diseases to new precision medicine treatments using genomics. |
Author | Lenardo, Michael Lo, Bernice Lucas, Carrie L |
AuthorAffiliation | lenardo@nih.gov Molecular Development of the Immune System Section, Laboratory of Immunology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; email |
AuthorAffiliation_xml | – name: Molecular Development of the Immune System Section, Laboratory of Immunology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; email – name: lenardo@nih.gov |
Author_xml | – sequence: 1 givenname: Michael surname: Lenardo fullname: Lenardo, Michael – sequence: 2 givenname: Bernice surname: Lo fullname: Lo, Bernice – sequence: 3 givenname: Carrie L surname: Lucas fullname: Lucas, Carrie L |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26735698$$D View this record in MEDLINE/PubMed |
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Snippet | Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening... Genomic DNA sequencing technologies have been one of the great advances of the 21st century – decreasing in cost by 7 orders of magnitude and opening up new... |
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SubjectTerms | Animals biochemical Cation Transport Proteins - genetics CTLA-4 Antigen - genetics Genomics High-Throughput Nucleotide Sequencing Humans immune disorder Immune System Diseases - genetics Immune System Diseases - therapy Male mechanism Molecular Targeted Therapy Mutation - genetics Phosphatidylinositol 3-Kinases - genetics targeted therapy X-Linked Combined Immunodeficiency Diseases - genetics X-Linked Combined Immunodeficiency Diseases - therapy |
Title | Genomics of Immune Diseases and New Therapies |
URI | http://dx.doi.org/10.1146/annurev-immunol-041015-055620 https://www.ncbi.nlm.nih.gov/pubmed/26735698 https://search.proquest.com/docview/1789035550 https://search.proquest.com/docview/1808692326 https://pubmed.ncbi.nlm.nih.gov/PMC5736009 |
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