{"title":"两个具有新型LRBA突变的男性兄弟姐妹表现出不同的IPEX综合征。","authors":"Sanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Deniz Yilmaz Karapinar, Funda Cetin, Yesim Aydinok, Elif Azarsiz, Eleonora Gambineri, Ozgur Cogulu, Ezgi Ulusoy Severcan, Hudaver Alper, Necil Kutukculer","doi":"10.1099/jmmcr.0.005167","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.</p><p><strong>Case presentation: </strong>Two male siblings with a novel <i>LRBA</i> mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the <i>LRBA</i> gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results.</p><p><strong>Conclusion: </strong>LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.</p>","PeriodicalId":73559,"journal":{"name":"JMM case reports","volume":"5 10","pages":"e005167"},"PeriodicalIF":0.0000,"publicationDate":"2018-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1099/jmmcr.0.005167","citationCount":"16","resultStr":"{\"title\":\"Two male siblings with a novel <i>LRBA</i> mutation presenting with different findings of IPEX syndrome.\",\"authors\":\"Sanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Deniz Yilmaz Karapinar, Funda Cetin, Yesim Aydinok, Elif Azarsiz, Eleonora Gambineri, Ozgur Cogulu, Ezgi Ulusoy Severcan, Hudaver Alper, Necil Kutukculer\",\"doi\":\"10.1099/jmmcr.0.005167\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.</p><p><strong>Case presentation: </strong>Two male siblings with a novel <i>LRBA</i> mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the <i>LRBA</i> gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results.</p><p><strong>Conclusion: </strong>LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.</p>\",\"PeriodicalId\":73559,\"journal\":{\"name\":\"JMM case reports\",\"volume\":\"5 10\",\"pages\":\"e005167\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-10-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1099/jmmcr.0.005167\",\"citationCount\":\"16\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JMM case reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1099/jmmcr.0.005167\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JMM case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1099/jmmcr.0.005167","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/10/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.
Introduction: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.
Case presentation: Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results.
Conclusion: LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.
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