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Trends Genet ; 35(12): 935-947, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31668909

RESUMO

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.


Assuntos
Variação Genética , Imunidade/genética , Imunogenética , Alelos , Desenvolvimento Embrionário/genética , Estudos de Associação Genética , Aconselhamento Genético , Ligação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Testes Genéticos , Genótipo , Humanos , Imunogenética/métodos , Mosaicismo , Herança Multifatorial , Fenótipo , Polimorfismo de Nucleotídeo Único
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