IL-10 and IL-10 receptor defects in humans

被引：193
作者：
Glocker, Erik-Oliver [1 ]
Kotlarz, Daniel [2 ]
Klein, Christoph [2 ]
Shah, Neil [3 ]
Grimbacher, Bodo [4 ,5 ]
机构：
[1] Univ Hosp Freiburg, Inst Med Microbiol & Hyg, Freiburg, Germany
[2] Univ Munich, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany
[3] UCL, Great Ormond St Hosp, Dept Paediat Gastroenterol, London, England
[4] UCL, Sch Med, Dept Immunol, London W1N 8AA, England
[5] Univ Hosp Freiburg, Ctr Chron Immune Deficiency, Freiburg, Germany
来源：
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II | 2011年 / 1246卷
关键词：
IL-10; receptor; mutation; STAT3; inflammatory bowel disease; INFLAMMATORY-BOWEL-DISEASE; REGULATORY T-CELLS; X-LINKED SYNDROME; INTERLEUKIN-10; RECEPTOR; IMMUNE DYSREGULATION; ULCERATIVE-COLITIS; EPITHELIAL-CELLS; CROHNS-DISEASE; HOST-DEFENSE; POLYENDOCRINOPATHY;
D O I：
10.1111/j.1749-6632.2011.06339.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：102 / 107
页数：6
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