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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Bibliographic Details
Published inAnnual review of immunology Vol. 34; no. 1; pp. 121 - 149
Main Authors Lenardo, Michael, Lo, Bernice, Lucas, Carrie L
Format Journal Article
LanguageEnglish
Published United States Annual Reviews 20.05.2016
Subjects
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
targeted therapy
genomics
immune disorder
mechanism
biochemical
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Summary: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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ISSN:0732-0582
1545-3278
DOI:10.1146/annurev-immunol-041015-055620