本文报道1对父子克罗恩病（CD）患者伴有NOD样受体家族含pyrin结构域12（NLRP12）基因c.1382移码变异病例，结合文献复习对国内外其他CD合并NLRP12基因突变的病例及NLRP12在炎症性肠病中的作用机制研究进行归纳，为后续个体化治疗的探索提供参考。 A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 (NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.
Abstract
A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 (NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.
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