Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67 phox .

Dirk Roos,Jaap D van Buul,Anton Tj Tool,Juan D Matute,Christophe M Marchal,Bu'Hussain Hayee,M Yavuz Köker,Martin de Boer,Karin van Leeuwen,Anthony W Segal,Edgar Pick,Mary C Dinauer

Journal of clinical & cellular immunology（2014）

引用 8|浏览14

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摘要

The mutation found in is the cause of the decreased NADPH oxidase activity and the (mild) clinical problems of the patients. We propose that the p.Ala202Val mutation has changed the conformation of the activation domain of p67, resulting in reduced activation of gp91.

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关键词

Chronic granulomatous disease,NADPH oxidase,NCF2,hypomorphic mutation,p67phox,p67phox activation domain,p67phox translocation

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