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The immune system is paradigmatic for a complex arrangement of heterogenous cells performing distinct, frequently temporally and anatomically dissociated, functions. Immune dysfunction is a common characteristic across most diseases and human genetic approaches have revealed that many disease risk loci are associated with expression profiles and counts of specific immune subsets. Furthermore, genetic regulators of immune function may only demonstrate activity in specific disease-linked contexts. Here we explore steps taken to dissect the genetic determinants of variation in immune response across cell counts and function, and the insights these have provided into human immunity.

Original publication

DOI

10.1016/j.coi.2020.05.005

Type

Journal

Curr Opin Immunol

Publication Date

08/2020

Volume

65

Pages

74 - 78

Keywords

Genetic Variation, Humans, Immune System, Immunity