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

ConclusionsRTEL1 mutations are associated with significant alterations in immune landscape and can manifest with infantile-onset IBD. A high index of suspicion is required in Ashkenazi Jewish families where the carriage rate of the C.3791G>A variant is high.

http://link.springer.com/10.1007/s10875-020-00829-z

Source: Journal of Clinical Immunology - July 23, 2020 Category: Allergy & Immunology Source Type: research