Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.

JMM case reports Pub Date : 2018-10-15 eCollection Date: 2018-10-01 DOI:10.1099/jmmcr.0.005167

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

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引用次数: 16

Abstract

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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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。

简介:脂多糖反应性米粒样锚蛋白缺乏症(LRBA)是一种免疫失调疾病，其自身免疫影响各系统。病例介绍:两个患有新型LRBA突变的男性兄弟姐妹入院时的主要表现不同:弟弟妹妹患有慢性早发性腹泻，哥哥患有自身免疫性溶血性贫血。在IPEX表型的长期随访中，两人都出现了低γ球蛋白血症、肠病和肺部受累。患者对免疫抑制疗法有部分反应。在LRBA基因中检测到一个纯合子c.2496C>A, p.Cys832Ter (p.C832*)突变，导致过早终止密码子。经过分子诊断，abataccept作为靶向性分子被使用，效果良好。结论:LRBA缺乏是一种新近定义的缺陷，在不同的患者中有不同的表现;因此，目前还没有确定的单一治疗方案。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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JMM case reports

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