IL-10 and IL-10 receptor defects in humans

被引：197

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

页码：102 / 107

页数：6

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