Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review

Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review

Abstract Background In East Asia, IL10RA is the predominant pathogenic gene in patients with very early-onset inflammatory bowel disease (VEO-IBD), frequently characterised by refractory diarrhoea and severe perianal disease, resulting in elevated death rates. IL10RA-deficient IBD, an autosomal rece...

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Bibliographic Details
Main Authors: Xiu Shi, Ziqing Ye, Lai Qian, Wenhui Hu, Ye Yang, Chunmeng He, Zhiheng Huang, Bingbing Wu, Ying Huang
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
IL10RA
Apparent homozygosity
Uniparental disomy
Gene deletion
Online Access:https://doi.org/10.1186/s13023-025-03779-0
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