医学
疾病
炎症性肠病
免疫学
发病机制
克罗恩病
突变
候选基因
细胞因子
基因
遗传学
生物信息学
内科学
生物
摘要
In this issue of the Journal, Glocker et al.1 provide the first substantial support for a functional role for the immunosuppressive cytokine interleukin-10 in the pathogenesis of inflammatory bowel disease in humans. By performing genetic-linkage and candidate-gene analysis of two unrelated consanguineous families with children who have a severe, progressive, poorly treatable form of Crohn's disease that occurs in the first year of life, the investigators identified homozygous, recessive loss-of-function mutations in the interleukin-10 receptor genes, IL10RA and IL10RB, which most likely contributed to the patients' disease. A third distinct mutation in IL10RA was found in an unrelated patient. Finally, . . .
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