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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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03779-0 |
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