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
收藏
页码：599 / 611
页数：13
相关论文
共 50 条
  • [1] Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice
    Aline Azabdaftari
    Kelsey D. J. Jones
    Jochen Kammermeier
    Holm H. Uhlig
    Human Genetics, 2023, 142 : 599 - 611
  • [2] Precision medicine for a case with monogenic inflammatory bowel disease
    Schwaerzler, J. P.
    Zollner, A.
    Dolejsi, T.
    Enrich, B.
    Mayr, L.
    Sturm, W.
    Tancevski, I.
    Zschocke, J.
    Adolph, T. E.
    Tilg, H.
    JOURNAL OF CROHNS & COLITIS, 2023, 17 : 446 - 448
  • [3] Glucocorticoid Therapy in Inflammatory Bowel Disease: Mechanisms and Clinical Practice
    Bruscoli, Stefano
    Febo, Marta
    Riccardi, Carlo
    Migliorati, Graziella
    FRONTIERS IN IMMUNOLOGY, 2021, 12
  • [4] Personalised medicine in juvenile dermatomyositis: From novel insights in disease mechanisms to changes in clinical practice
    Veldkamp, Saskia R.
    van Wijk, Femke
    van Royen-Kerkhof, Annet
    Jansen, Marc H. A.
    BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 2024, 38 (03):
  • [5] Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience
    Lega, Sara
    Pin, Alessia
    Arrigo, Serena
    Cifaldi, Cristina
    Girardelli, Martina
    Bianco, Anna Monica
    Malamisura, Monica
    Angelino, Giulia
    Faraci, Simona
    Rea, Francesca
    Romeo, Erminia Francesca
    Aloi, Marina
    Romano, Claudio
    Barabino, Arrigo
    Martelossi, Stefano
    Tommasini, Alberto
    Di Matteo, Gigliola
    Cancrini, Caterina
    De Angelis, Paola
    Finocchi, Andrea
    Bramuzzo, Matteo
    INFLAMMATORY BOWEL DISEASES, 2020, 26 (05) : 720 - 727
  • [6] Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a 10-year multicentric experience
    Lega, S.
    Pin, A.
    Arrigo, S.
    Cifaldi, C.
    Girardelli, M.
    Bianco, A.
    Malamisura, M.
    Angelino, G.
    Faraci, S.
    Romeo, E. F.
    Papadatou, B.
    Miano, M.
    Aloi, M.
    Magazzu, G.
    Romano, C.
    Calvo, P.
    Barabino, A.
    Martelossi, S.
    Tommasini, A.
    Di Matteo, G.
    Cancrini, C.
    De Angelis, P.
    Finocchi, A.
    Bramuzzo, M.
    JOURNAL OF CROHNS & COLITIS, 2019, 13 : S200 - S201
  • [7] Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
    Holm H. Uhlig
    Claire Booth
    Judy Cho
    Marla Dubinsky
    Anne M. Griffiths
    Bodo Grimbacher
    Sophie Hambleton
    Ying Huang
    Kelsey Jones
    Jochen Kammermeier
    Hirokazu Kanegane
    Sibylle Koletzko
    Daniel Kotlarz
    Christoph Klein
    Michael J. Lenardo
    Bernice Lo
    Dermot P. B. McGovern
    Ahmet Özen
    Lissy de Ridder
    Frank Ruemmele
    Dror S. Shouval
    Scott B. Snapper
    Simon P. Travis
    Dan Turner
    David C. Wilson
    Aleixo M. Muise
    Nature Reviews Gastroenterology & Hepatology, 2023, 20 : 810 - 828
  • [8] Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
    Uhlig, Holm H.
    Booth, Claire
    Cho, Judy
    Dubinsky, Marla
    Griffiths, Anne M.
    Grimbacher, Bodo
    Hambleton, Sophie
    Huang, Ying
    Jones, Kelsey
    Kammermeier, Jochen
    Kanegane, Hirokazu
    Koletzko, Sibylle
    Kotlarz, Daniel
    Klein, Christoph
    Lenardo, Michael J.
    Lo, Bernice
    Mcgovern, Dermot P. B.
    Ozen, Ahmet
    de Ridder, Lissy
    Ruemmele, Frank
    Shouval, Dror S.
    Snapper, Scott B.
    Travis, Simon P.
    Turner, Dan
    Wilson, David C.
    Muise, Aleixo M.
    NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY, 2023, 20 (12) : 810 - 828
  • [9] Impact of GPCRs in clinical medicine: Monogenic diseases, genetic variants and drug targets
    Insel, Paul A.
    Tang, Chih-Min
    Hahntow, Ines
    Michel, Martin C.
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, 2007, 1768 (04): : 994 - 1005
  • [10] Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease
    Ramaswamy Ganesh
    Malathi Sathiyasekeran
    Sankaranarayanan Srinivas
    R. Karthik Narayanan
    Indian Journal of Pediatrics, 2022, 89 : 497 - 502
12345