Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease

Huang, Zhiheng; Peng, Kaiyue; Li, Xiaoqin; Zhao, Ruizhi; You, Jie-Yu; Cheng, Xiuyong; Wang, Zhaoxia; Wang, Ying; Wu, Bingbing; Wang, Huijun; Zeng, Huasong; Yu, Zhuowen; Zheng, Cuifang; Wang, Yue-Sheng; Huang, Ying

doi:10.1097/mib.0000000000001058

Cited by 51 publications

(43 citation statements)

References 31 publications

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“…A recent study has reported that the incidence of EO‐CD is increasing . Such tendency has also been observed in China recently …”

Section: Introductionmentioning

confidence: 59%

“…We have reported the use of UCBT for the treatment of EO‐CD in two articles . More patients with EO‐CD were treated with UCBT for IL‐10A‐associated immune deficiency.…”

Section: Discussionmentioning

confidence: 99%

“…We have reported the use of UCBT for the treatment of EO-CD in two articles. 18,19 More patients with EO-CD were treated with UCBT for IL-10A-associated immune deficiency. UCBT has been an effective treatment for VEO-CD patients with a defined monogenic immunodeficiency in our center over the years.…”

Section: Discussionmentioning

confidence: 99%

“…11 Such tendency has also been observed in China recently. 18,19 There are limited data for patients with EO-CD in China, especially for those with very-early-onset CD (VEO-CD; diagnosed at <6 years old). 19 The aim of our study was to investigate the epidemiological, clinical, and nutritional characteristics of EO-CD in Chinese pediatric patients.…”

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confidence: 99%

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Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Tang

Shi

Cui

et al. 2019

J of Digest Diseases

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Objective To study the clinical and nutritional characteristics of early‐onset Crohn's disease (EO‐CD) in China. Methods Patients were defined as having EO‐CD (age at diagnosis <10 y) or late‐onset Crohn's disease (LO‐CD; age at diagnosis of 10‐17 y). Their characteristics, clinical, and nutritional data were collected at baseline and at each follow‐up visit. Statistical analyses were used to compare differences in both groups. Results From July 1993 to February 2017, of the 137 children enrolled, 68 (49.6%) had EO‐CD and 69 (50.4%) had LO‐CD. More patients with EO‐CD than those with LO‐CD presented with diarrhea, hematochezia, growth delay, anemia and skin disease, and had higher pediatric Crohn's disease activity index scores at diagnosis (all P < 0.05). Fewer patients with EO‐CD achieved their first remission (42.6% vs 76.8%, P < 0.0001) during follow‐up. Patients with EO‐CD required a longer treatment time to reach remission (P = 0.0049) and had a higher mortality rate (P = 0.0133), as well as lower height and weight percentiles (P = 0.0200 and 0.0288, respectively), hemoglobin (P = 0.0185) and albumin levels (P = 0.0002), zinc (P = 0.0024) and iron (P = 0.0110) concentrations in blood at diagnosis. Conclusion The EO‐CD group had worse clinical outcomes and nutritional status than the LO‐CD group.

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“…A recent study has reported that the incidence of EO‐CD is increasing . Such tendency has also been observed in China recently …”

Section: Introductionmentioning

confidence: 59%

“…We have reported the use of UCBT for the treatment of EO‐CD in two articles . More patients with EO‐CD were treated with UCBT for IL‐10A‐associated immune deficiency.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Tang

Shi

Cui

et al. 2019

J of Digest Diseases

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“…These infections are considered to be systemic because the physical barrier is breached by injection. By contrast, IL10R2 deficiency, which cripples cellular responses to IL-10, IL-22, IL-26 and type III IFNs, appears to be associated with inflammatory bowel diseases (IBDs) rather than severe infections (Glocker et al 2009;Pigneur et al 2013;Karaca et al 2016;Huang et al 2017;Charbit-Henrion et al 2018). This is because IL10R2 is shared by several IL-10 family cytokines, including IL-10, IL-22, and IL-26, in addition to IFN-λ (Shouval et al 2014;Ouyang and O'Garra 2019).…”

Section: Inherited Irf7 and Irf9 Deficienciesmentioning

confidence: 99%

Human genetics of life-threatening influenza pneumonitis

Zhang

2020

Hum Genet

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Influenza viruses infect millions of people around the globe annually, usually causing self-limited upper respiratory tract infections. However, a small but non-negligible proportion of patients suffer from life-threatening pulmonary disease. Those affected include otherwise healthy individuals, and children with primary infections in particular. Much effort has been devoted to virological studies of influenza and vaccine development. By contrast, the enormous interindividual variability in susceptibility to influenza has received very little attention. One interesting hypothesis is that interindividual variability is driven largely by the genetic makeup of the infected patients. Unbiased genomic approaches have been used to search for genetic lesions in children with life-threatening pulmonary influenza. Four monogenic causes of severe influenza pneumonitis-deficiencies of GATA2, IRF7, IRF9, and TLR3-have provided evidence that severe influenza pneumonitis can be genetic and often in patients with no other severe infections. These deficiencies highlight the importance of human type I and III IFN-mediated immunity for host defense against influenza. Clinical penetrance is incomplete, and the underlying mechanisms are not yet understood. However, human genetic studies have clearly revealed that seemingly sporadic and isolated life-threatening influenza pneumonitis in otherwise healthy individuals can be genetic.

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Immunodeficiency Disorders Resulting in Malabsorption

Meglio

Carucci

Canani

2021

Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease

Abstract: This study identified genotypes and phenotypes of Chinese VEO-IBD infants with IL10 receptor mutations. Our study expands the current knowledge on the involvement of the IL10 axis in patients with VEO-IBD.

Cited by 51 publications

References 31 publications

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Human genetics of life-threatening influenza pneumonitis

Immunodeficiency Disorders Resulting in Malabsorption

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