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
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
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
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 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
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.
Tomomasa D et al.
Journal of Clinical Immunology, 2024
Successful cord blood transplantation using reduced intensity conditioning in a 5-month-old patient with IL-10RA deficiency.
Isobe K et al.
Pediatric Blood & Cancer, 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
An interleukin 10 Receptor alpha (IL-10RA) variant with a compound heterozygote mutation shows normal IL-10 signaling activity.
Lv J et al.
Genes & Diseases, 2023
Human Genome Polymorphisms and Computational Intelligence Approach Revealed a Complex Genomic Signature for COVID-19 Severity in Brazilian Patients.
Pastor AF et al.
Viruses, 2023
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
Aschenbrenner D et al.
Journal of Clinical Immunology, 2023
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in 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
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
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
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Rahmani F et al.
Immunological Investigations, 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 Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease secondary to IL-10 receptor deficiency.
Sandy NS et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2021
Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.
Sasahara Y et al.
Frontiers in Immunology, 2021
Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.
Uchida T et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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
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
IL-10RA Mutation as a Risk Factor of Severe Influenza-Associated Encephalopathy: A Case Report.
Ishige T et al.
Pediatrics, 2018
Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.
Fang YH et al.
World Journal of Gastroenterology, 2018
Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).
Al-Abbasi FA et al.
Frontiers in Genetics, 2018
Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.
Nemati S et al.
European Journal of Medical Genetics, 2017
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
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.
Shouval DS 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
Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.
Suzuki T et al.
Journal of Clinical Immunology, 2017
A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.
Oh SH et al.
Journal of Crohn's & Colitis, 2016
Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.
Yanagi T et al.
Bmc Gastroenterology, 2016