LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
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DOI：
10.1016/j.jaci.2012.05.043
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发表时间：
2012-08
影响因子：
14.2
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
--
作者：
Alangari, Abdullah;Alsultan, Abdulrahman;Adly, Nouran;Massaad, Michel J.;Kiani, Iram Shakir;Aljebreen, Abdulrahman;Raddaoui, Emad;Almomen, Abdul-Kareem;Al-Muhsen, Saleh;Geha, Raif S.;Alkuraya, Fowzan S.
关键词：
临床免疫学传统上依赖于患者免疫功能障碍的准确表型，以鉴定用于测序和分子确认的一个或多个候选基因。虽然这也适用于医学的其他分支，但免疫相关表型的显著变化和赋予正常宿主免疫力的高度复杂的分子网络是临床免疫学家在寻求建立特定遗传诊断时经常面临的挑战。我们试图在一个患有慢性炎症性肠病样疾病和联合免疫缺陷的近亲家族中确定潜在的遗传原因。我们进行了外显子组测序，然后进行了自动测序过滤。在LPS反应性米色样锚（LRBA），消除蛋白质表达的截短突变，被确定为最有可能的候选变异在这个家庭。外显子组测序和同源性作图相结合的方法是研究非典型免疫功能障碍的有力工具。我们确定LRBA作为一种新的免疫缺陷候选基因，其在免疫系统中的确切作用需要进一步的研究。
Clinical immunology has traditionally relied on accurate phenotyping of the patient’s immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in immune-related phenotypes and the highly complex network of molecules that confer normal host immunity are challenges that clinical immunologists often face in their quest to establish a specific genetic diagnosis. We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease–like disorder and combined immunodeficiency. We performed exome sequencing followed by autozygome filtration. A truncating mutation in LPS-responsive beige-like anchor (LRBA), which abolished protein expression, was identified as the most likely candidate variant in this family. The combined exome sequencing and autozygosity mapping approach is a powerful tool in the study of atypical immune dysfunctions. We identify LRBA as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies.
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影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
FISCHER, MB;HAUBER, I;EIBL, MM
通讯作者：
EIBL, MM
影响因子：
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作者：
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作者：
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DOI：
10.1111/j.1600-0854.2009.00913.x
发表时间：
2009-06
期刊：
Traffic (Copenhagen, Denmark)
影响因子：
--
作者：
Yuseff MI;Lankar D;Lennon-Duménil AM
通讯作者：
Lennon-Duménil AM