Functional genomics in inborn errors of immunity

被引：1

作者：

Hurabielle, Charlotte ^{[1
]}

Laflam, Taylor N. ^{[2
]}

Gearing, Melissa ^{[1
]}

Ye, Chun Jimmie ^{[1
,3
,4
,5
,6
,7
,8
,9
,10
]}

机构：

[1] UCSF, Dept Med, Div Rheumatol, San Francisco, CA 94143 USA

[2] UCSF, Dept Pediat, Div Pediat Rheumatol, San Francisco, CA USA

[3] UCSF, Inst Human Genet, San Francisco, CA USA

[4] UCSF, Inst Computat Hlth Sci, San Francisco, CA USA

[5] Gladstone Genom Immunol Inst, San Francisco, CA USA

[6] UCSF, Parker Inst Canc Immunotherapy, San Francisco, CA USA

[7] UCSF, Dept Epidemiol & Biostat, San Francisco, CA USA

[8] UCSF, Dept Microbiol & Immunol, San Francisco, CA USA

[9] UCSF, Dept Bioengn & Therapeut Sci, San Francisco, CA USA

[10] Arc Inst, Palo Alto, CA USA

来源：

IMMUNOLOGICAL REVIEWS | 2024年 / 322卷 / 01期

关键词：

coding variant functionalization; functional genomics; inborn errors of immunity; non-coding variant functionalization; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENETIC-VARIATION; BEHCETS-DISEASE; DNA; MUTATIONS; VARIANTS; EXPRESSION; BASE; SUSCEPTIBILITY; ASSOCIATION;

D O I：

10.1111/imr.13309

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Inborn errors of immunity (IEI) comprise a diverse spectrum of 485 disorders as recognized by the International Union of Immunological Societies Committee on Inborn Error of Immunity in 2022. While IEI are monogenic by definition, they illuminate various pathways involved in the pathogenesis of polygenic immune dysregulation as in autoimmune or autoinflammatory syndromes, or in more common infectious diseases that may not have a significant genetic basis. Rapid improvement in genomic technologies has been the main driver of the accelerated rate of discovery of IEI and has led to the development of innovative treatment strategies. In this review, we will explore various facets of IEI, delving into the distinctions between PIDD and PIRD. We will examine how Mendelian inheritance patterns contribute to these disorders and discuss advancements in functional genomics that aid in characterizing new IEI. Additionally, we will explore how emerging genomic tools help to characterize new IEI as well as how they are paving the way for innovative treatment approaches for managing and potentially curing these complex immune conditions.

引用

页码：53 / 70

页数：18

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