Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis
Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis
复制标题
编码丝聚蛋白的基因的功能丧失突变是一个日本家庭患有食物依赖性运动诱发过敏反应的原因
DOI：
10.1111/jdv.12441
复制
发表时间：
2015
影响因子：
9.2
通讯作者：
Shimizu H.
中科院分区：
文献类型：
--
作者：
Mizuno O;Nomura T;Ohguchi Y;Suzuki S;Nomura Y;Hamade Y;Hoshina D;Sandilands A;Akiyama M;McLean WH;Abe R;Shimizu H.
研究背景食物依赖性运动诱发过敏反应（FDEIA）是一种严重的食物过敏反应，当进食后数小时内进行运动时发生过敏反应。FDEIA中过敏致敏的确切机制一直是一个重要问题，但人们对此知之甚少。目的我们的目的是阐明FDEIA中涉及的过敏原致敏途径等病理机制。方法对一个患有小麦依赖性运动诱导过敏反应（WDEIA）的日本家庭进行了临床检查，WDEIA是FDEIA的一种特殊形式。编码聚丝蛋白（FLG）的基因突变分析也performed.ResultsTwo的家庭成员被证实为WDEIA的基础上，他们的病史和积极的激发试验结果。值得注意的是，该家族中的两名受影响个体伴有寻常型鱼鳞病。突变分析FLG Grevealed，他们携带一个或多个功能丧失的突变，还没有在日本population.ConclusionThese结果表明，FLG突变可能参与发病机制的WDEIA在这种情况下。
BackgroundFood‐dependent exercise‐induced anaphylaxis (FDEIA) is a serious food allergy in which anaphylaxis develops when exercise is performed within several hours after food intake. The precise mechanism underlying allergic sensitization in FDEIA has been an important issue but remains poorly understood.ObjectivesWe aimed to elucidate the pathomechanism including the route of allergen sensitization involved in FDEIA.MethodsA Japanese family with wheat‐dependent exercise‐induced anaphylaxis (WDEIA), a specific form of FDEIA, were clinically examined. Mutation analysis of the gene encoding filaggrin (FLG) was also performed.ResultsTwo of the family members were confirmed as WDEIA on the basis of their medical history and positive provocation test results. Notably, the two affected individuals in the family had concomitant ichthyosis vulgaris. Mutation analysis ofFLGrevealed that they carry one or more loss‐of‐function mutations that have not been described in the Japanese population.ConclusionThese results indicate thatFLGmutations might be involved in the pathogenesis of WDEIA in the present case.