Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice

被引：6

作者：

Azabdaftari, Aline ^{[1
]}

Jones, Kelsey D. J. ^{[2
,3
]}

Kammermeier, Jochen ^{[4
]}

Uhlig, Holm H. ^{[1
,5
,6
]}

机构：

[1] Univ Oxford, John Radcliffe Hosp, Translat Gastroenterol Unit, Oxford, England

[2] Univ Oxford, Kennedy Inst Rheumatol, Oxford, England

[3] Great Ormond St Hosp Children NHS Fdn Trust, Dept Gastroenterol, London, England

[4] Evelina London Childrens Hosp, Dept Gastroenterol, London, England

[5] Univ Oxford, Dept Paediat, Oxford, England

[6] NIHR Oxford Biomed Res Ctr, Oxford, England

来源：

HUMAN GENETICS | 2023年 / 142卷 / 05期

基金：

英国医学研究理事会;

关键词：

STEM-CELL TRANSPLANTATION; IMMUNE DYSREGULATION; INTESTINAL INFLAMMATION; MUTATIONS; DEFICIENCY; INTERLEUKIN-10; PROTEIN; IMMUNODEFICIENCY; ENTEROPATHY; MANIFESTATIONS;

D O I：

10.1007/s00439-022-02464-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of genetic disorders and clinical genomics supports personalised medicine for patients with monogenic IBD.

引用

页码：599 / 611

页数：13

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