Literature DB >> 31668909

Somatic Variants: New Kids on the Block in Human Immunogenetics.

L Van Horebeek1, B Dubois2, A Goris3.   

Abstract

Somatic variants are not inherited but acquired during an individual's lifetime, and individuals are increasingly considered as complex mosaics of genetically distinct cells. Whereas this concept is long-recognized in cancer, this review focuses on the growing role of somatic variants in immune cells in nonmalignant immune-related disorders, such as primary immunodeficiency and autoimmune diseases. Older case reports described somatic variants early in development, leading to large numbers of affected cells and severe phenotypes. Thanks to technological evolution, it is now feasible to detect somatic variants occurring later in life and affecting fewer cells. Hence, only recently is the scale at which somatic variants contribute to monogenic diseases being uncovered and is their contribution to complex diseases being explored systematically.
Copyright © 2019 The Authors. Published by Elsevier Ltd.. All rights reserved.

Entities:  

Keywords:  autoimmune diseases; immune cells; nonmalignant immune-related diseases; primary immunodeficiency diseases; somatic variants

Mesh:

Substances:

Year:  2019        PMID: 31668909     DOI: 10.1016/j.tig.2019.09.005

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  13 in total

Review 1.  Human immune diversity: from evolution to modernity.

Authors:  Adrian Liston; Stephanie Humblet-Baron; Darragh Duffy; An Goris
Journal:  Nat Immunol       Date:  2021-11-18       Impact factor: 25.606

Review 2.  Neurodevelopmental disorders, immunity, and cancer are connected.

Authors:  Ruth Nussinov; Chung-Jung Tsai; Hyunbum Jang
Journal:  iScience       Date:  2022-05-30

3.  Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R J Seppänen; Raz Somech; Helen C Su; Kathleen E Sullivan; Troy R Torgerson; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2022-06-24       Impact factor: 8.542

Review 4.  [Genetic diagnostics of autoinflammatory diseases].

Authors:  Oskar Schnappauf
Journal:  Z Rheumatol       Date:  2020-09       Impact factor: 1.372

Review 5.  Genetic Mosaicism as a Cause of Inborn Errors of Immunity.

Authors:  Jahnavi Aluri; Megan A Cooper
Journal:  J Clin Immunol       Date:  2021-04-16       Impact factor: 8.317

Review 6.  Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology.

Authors:  Ianthe A E M van Belzen; Alexander Schönhuth; Patrick Kemmeren; Jayne Y Hehir-Kwa
Journal:  NPJ Precis Oncol       Date:  2021-03-02

Review 7.  Monogenic Adult-Onset Inborn Errors of Immunity.

Authors:  Frederik Staels; Tom Collignon; Albrecht Betrains; Margaux Gerbaux; Mathijs Willemsen; Stephanie Humblet-Baron; Adrian Liston; Steven Vanderschueren; Rik Schrijvers
Journal:  Front Immunol       Date:  2021-11-17       Impact factor: 7.561

Review 8.  Reversion Mosaicism in Primary Immunodeficiency Diseases.

Authors:  Hanae Miyazawa; Taizo Wada
Journal:  Front Immunol       Date:  2021-11-16       Impact factor: 7.561

Review 9.  Genetics of autosomal mosaic chromosomal alteration (mCA).

Authors:  Xiaoxi Liu; Yoichiro Kamatani; Chikashi Terao
Journal:  J Hum Genet       Date:  2021-07-28       Impact factor: 3.172

10.  CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Authors:  Miko Valori; Lilja Jansson; Pentti J Tienari
Journal:  PLoS One       Date:  2021-12-07       Impact factor: 3.240

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