An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency-Reference-Cited by-同舟云学术

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency

Published:2020-07-24 Issue:7 Volume:40 Page:1010-1019
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Ziv Alma,Werner Lael,Konnikova Liza,Awad Aya,Jeske Tim,Hastreiter Maximilian,Mitsialis Vanessa,Stauber Tali,Wall Sarah,Kotlarz Daniel,Klein Christoph,Snapper Scott B,Tzfati Yehuda,Weiss Batia,Somech Raz,Shouval Dror S.

Funder

Leona M. and Harry B. Helmsley Charitable Trust

German Academic Exchange Service DAAD

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-020-00829-z.pdf

Reference41 articles.

1. Graham DB, Xavier RJ. Pathway paradigms revealed from the genetics of inflammatory bowel disease. Nature. 2020;578:527–39. https://doi.org/10.1038/s41586-020-2025-2.

2. Uhlig, H. H. et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology 147, 990–1007. e1003 (2014).

3. Kelsen JR, Baldassano RN, Artis D, Sonnenberg GF. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. 2015;1:462–76. https://doi.org/10.1016/j.jcmgh.2015.06.010.

4. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6:327–37. https://doi.org/10.1586/ehm.13.23.

5. Roake CM, Artandi SE. Regulation of human telomerase in homeostasis and disease. Nat Rev Mol Cell Biol. 2020;21:384–97. https://doi.org/10.1038/s41580-020-0234-z.

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