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

  • Published:2022-06-28 Issue: Volume: Page:
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Azabdaftari Aline,Jones Kelsey D. J.,Kammermeier Jochen,Uhlig Holm H.

Funder

NIHR Oxford Biomedical Research Centre

Leona M. and Harry B. Helmsley Charitable Trust

Crohn’s in Childhood Research Association

Medical Research Council

Deutsche Forschungsgemeinschaft

Janssen Pharmaceuticals

UCB UK

Eli Lilly and Company

Bristol-Myers Squibb

MiroBio

OMass

Mestag

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference93 articles.

1. Al-Shaibi AA, Abdel-Motal UM, Hubrack SZ, Bullock AN, Al-Marri AA, Agrebi N, Al-Subaiey AA, Ibrahim NA, Charles AK, Group, C. i. I. B. D. Q. s., Elawad, M., Uhlig, H. H., & Lo, B (2021) Human AGR2 deficiency causes mucus barrier dysfunction and infantile inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. https://doi.org/10.1016/j.jcmgh.2021.07.001

2. Ament ME, Ochs HD (1973) Gastrointestinal manifestations of chronic granulomatous disease. N Engl J Med 288(8):382–387. https://doi.org/10.1056/NEJM197302222880802

3. Angelino G, De Angelis P, Faraci S, Rea F, Romeo EF, Torroni F, Tambucci R, Claps A, Francalanci P, Chiriaco M, Di Matteo G, Cancrini C, Palma P, D’Argenio P, Dall’Oglio L, Rossi P, Finocchi A (2017) Inflammatory bowel disease in chronic granulomatous disease: an emerging problem over a 20 years’ experience. Pediatr Allergy Immunol 28(8):801–809. https://doi.org/10.1111/pai.12814

4. Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Stefansson K et al (2018) A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Nat Commun 9(1):4447. https://doi.org/10.1038/s41467-018-06964-x

5. Arnold DE, Nofal R, Wakefield C, Lehmberg K, Wustrau K, Albert MH, Morris EC, Heimall JR, Bunin NJ, Kumar A, Jordan MB, Cole T, Choo S, Brettig T, Speckmann C, Ehl S, Salamonowicz M, Wahlstrom J, Rao K, Marsh RA et al (2021) Reduced-intensity/reduced-toxicity conditioning approaches are tolerated in XIAP deficiency but patients fare poorly with acute GVHD. J Clin Immunol. https://doi.org/10.1007/s10875-021-01103-6

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