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人类的白细胞介素-10 和白细胞介素-10 受体缺陷。

IL-10 and IL-10 receptor defects in humans.

机构信息

Institute of Medical Microbiology and Hygiene, University Hospital Freiburg, Germany.

出版信息

Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x.

DOI:10.1111/j.1749-6632.2011.06339.x
PMID:22236434
Abstract

Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is chronic in nature and is characterized by abdominal pain, diarrhea, bleeding, and malabsorption. It is considered a complex multigenic and multifactorial disorder that results from disturbed interactions between the immune system and commensal bacteria of the gut. Recent work has demonstrated that IBD with an early-onset within the first months of life can be monogenic: mutations in IL-10 or its receptor lead to a loss of IL-10 function and cause severe intractable enterocolitis in infants and small children. Both IL-10 and IL-10 receptor deficiency can be successfully treated by hematopoietic stem cell transplantation.

摘要

炎症性肠病(IBD)包括克罗恩病(CD)和溃疡性结肠炎(UC),其具有慢性特征,表现为腹痛、腹泻、出血和吸收不良。它被认为是一种复杂的多基因和多因素疾病,是由免疫系统和肠道共生菌之间的失调相互作用引起的。最近的研究表明,生命早期(出生后最初几个月内)发生的 IBD 可能是单基因疾病:IL-10 或其受体的突变导致 IL-10 功能丧失,并导致婴儿和幼儿出现严重的难治性肠炎。IL-10 和 IL-10 受体缺乏均可通过造血干细胞移植成功治疗。

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