Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Exploring genotype-phenotype correlations in three pediatric patients with IL10RA variants and very early-onset inflammatory bowel disease.
Qiu R et al.
Bmc Gastroenterology, 2026
Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.
Takeuchi I et al.
Intestinal Research, 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
Secondary hemophagocytic lymphohistiocytosis in a 5-month-old infant with IBD post-COVID-19: a case report.
Chen Y et al.
Frontiers in Pediatrics, 2025
Identification of Novel IL-10RA Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families.
Guan C et al.
Case Reports in Medicine, 2025
Matched Unrelated Donor Hematopoietic Stem Cell Transplant as Successful Curative Therapy for IL10RB Mutation-Associated Very Early Onset IBD.
Grotra R et al.
Pediatric Transplantation, 2024
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.
Tomomasa D et al.
Journal of Clinical Immunology, 2024
Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.
Zhang Q et al.
Heliyon, 2024
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
[Analysis of a child with Very early onset inflammatory bowel disease due to compound heterozygous variants of IL10RA and DUOX2 genes].
Zheng C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
[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
[Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease].
Dong R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
Collen LV et al.
Journal of Crohn's & Colitis, 2022
The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.
Sharifinejad N et al.
Clinical and Experimental Immunology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease.
Lv JJ et al.
World Journal of Gastroenterology, 2021
Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene.
Liu N et al.
Stem Cell Research, 2021
Clinical and genetic spectrum of neonatal arrhythmia in a NICU.
Dai Y et al.
Translational Pediatrics, 2021
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
Importance of early detection of infantile inflammatory bowel disease with defective IL-10 pathway: A case report.
Hung HH et al.
Medicine, 2021
Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.
Tang Z et al.
Bmc Gastroenterology, 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
Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.
Su W et al.
World Journal of Gastroenterology, 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
Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease.
Dong F et al.
Frontiers in Pediatrics, 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang X et al.
Frontiers in Genetics, 2021
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 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
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.
Werner L et al.
Frontiers in Immunology, 2020
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene.
Ma Y et al.
Stem Cell Research, 2019
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
Phenotypic characteristics and clinical manifestations of inflammatory bowel disease in infants and children under 2 years of age in Liaoning Province, China: five of six infants with IL-10R mutations.
Teng X et al.
Paediatrics and International Child Health, 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
Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.
Jung ES et al.
European Journal of Gastroenterology & Hepatology, 2018
[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