Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review.
Shi X et al.
Orphanet Journal of Rare Diseases, 2025
Characteristics of the gut microbiota and the effect of Bifidobacterium in very early-onset inflammatory bowel disease patients with IL10RA mutations.
Xu X et al.
Frontiers in Microbiology, 2024
[Clinical and genetic analysis of a very early-onset inflammatory bowel disease type 28 child with atypical clinical manifestation].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
Aschenbrenner D et al.
Journal of Clinical Immunology, 2023
The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.
Sharifinejad N et al.
Clinical and Experimental Immunology, 2022
A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.
Peng X et al.
Journal of Clinical Immunology, 2021
Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.
Ye Z et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.
Zhu T et al.
Clinical & Translational Immunology, 2021
Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.
Sasahara Y et al.
Frontiers in Immunology, 2021
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.
Zheng C et al.
Inflammatory Bowel Diseases, 2019
Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.
Lv H et al.
Hereditas, 2019
[Interleukin-10 receptor gene mutations induced very early onset inflammatory bowel disease in 6 infants].
Wang FP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Study of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.
Wang XQ et al.
Bmc Pediatrics, 2018
Umbilical Cord Blood Transplantation Corrects Very Early-Onset Inflammatory Bowel Disease in Chinese Patients With IL10RA-Associated Immune Deficiency.
Peng K et al.
Inflammatory Bowel Diseases, 2018
Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.
Ye Z et al.
Inflammatory Bowel Diseases, 2017
Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.
Huang Z et al.
Inflammatory Bowel Diseases, 2017
Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.
Xiao Y et al.
World Journal of Gastroenterology, 2016