错义突变
无义突变
突变
外显子
生物
外周血单个核细胞
白细胞介素12受体,β1亚单位
等位基因
Gα亚单位
免疫学
白细胞介素
分子生物学
医学
细胞因子
遗传学
基因
蛋白质亚单位
体外
作者
Cheng Hiang Lee,Peter Hsu,Brigitte Santner Nanan,Ralph Nanan,Melanie Wong,Kevin Gaskin,Rupert W. Leong,Ryan Murchie,Aleixo M. Muise,Michael Stormon
出处
期刊:Journal of Crohn's and Colitis
[Oxford University Press]
日期:2014-11-01
卷期号:8 (11): 1551-1556
被引量:27
标识
DOI:10.1016/j.crohns.2014.04.004
摘要
Defects in the interleukin 10 (IL-10) signalling pathway have been shown to cause very early onset inflammatory bowel disease (IBD). We report a patient with severe infantile-onset IBD with a compound heterozygous IL-10 receptor alpha subunit (IL-10RA) mutation, one of which was paternally-inherited and the other occurring de novo.Deep sequencing of IL-10, IL-10RA and IL-10 receptor beta subunit (IL-10RB) were performed. Peripheral blood mononuclear cell (PBMC) surface expression of IL-10RA was analysed by flow cytometry. IL-10 signalling pathway was examined by measuring phosphorylated STAT3 in PBMC cultured in the presence of IL-6 or IL-10.We identified a missense mutation in exon 4 of IL-10RA (c.583T>C) in one allele and a nonsense mutation in exon 7 of IL-10RA (c.1368G>T) in the other allele. Neither mutation has been reported previously. The patient has functional IL-10RA deficiency despite normal IL-10RA expression.This represents the first case report of a de novo mutation of IL-10RA that is associated with very early onset severe IBD. Therefore, IL-10 pathway defect should be considered in patients with infantile-onset IBD even if the parents are non-consanguineous.
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