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Gastroenterology|January 15, 2014
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel diseaseYaron Avitzur, Conghui Guo, Lucas A Mastropaolo, et al.
Nature Microbiology|January 26, 2026
Effector-host interactome map links type III secretion systems in healthy gut microbiomes to immune modulationVeronika Young, Bushra Dohai, Hridi Halder, et al.
Gastroenterology|February 3, 2016
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel DiseaseQi Li, Cheng Hiang Lee, Lauren A Peters, et al.
The Journal of Experimental Medicine|November 11, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitisSina Ghasempour, Neil Warner, Rei Guan, et al.
Journal of Crohn'S & Colitis|April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
Nature Genetics|March 30, 2021
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and miceLin Wang, Dominik Aschenbrenner, Zhiyang Zeng, et al.
Inflammatory Bowel Diseases|September 21, 2017
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic DiarrheaBritt-Sabina Petersen, Dietrich August, Renate Abt, et al.
The Journal of Experimental Medicine|August 26, 2015
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeAlexandra Y Kreins, Michael J Ciancanelli, Satoshi Okada, et al.
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