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

机译：两名具有新的LRBA突变的男性兄弟姐妹呈现IPEX综合征的不同发现

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摘要

IntroductionLPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.

机译：简介LPS反应性米色样锚（LRBA）蛋白缺乏症是一种免疫失调性疾病，自身免疫会影响各种系统。

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期刊名称 JMM Case Reports
作者
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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年(卷),期 2018(5),10
年度 2018
页码 e005167
总页数 10
原文格式 PDF
正文语种
中图分类
关键词
LRBA deficiency IPEX phenotype lung infections enteropathy autoimmunity abatacept;

机译：LRBA缺乏;IPEX表型;肺部感染;肠病;自身免疫;阿巴西普;

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专利

1. Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome [J] . Sanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, JMM Case Reports . 2018,第10期

机译：两个男性兄弟姐妹与新的lrba突变呈现出不同的IPEX综合征的不同结果
2. Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome. [J] . Allen EG, Hunter JE, Rusin M, Neuropsychology . 2011,第3期

机译：来自年龄较大的突变前携带者男性及其脆弱X综合征家庭的非携带者兄弟姐妹的神经心理学发现。
3. Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations [J] . Besnard Caroline, Levy Eva, Aladjidi Nathalie, Clinical immunology: The official journal of the Clinical Immunology Society . 2018,第期

机译：儿科发作evans综合征：异构介绍和单一的单一疾病的高频，包括LRBA和CTLA4突变
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. Neuropsychological findings from older premutation carrier males and their non-carrier siblings from families with fragile X syndrome [O] . Emily Graves Allen, Jessica E. Hunter, Michele Rusin, -1

机译：来自古代优质载体男性的神经心理学发现与脆弱X综合征的家庭的非载体兄弟姐妹
7. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. [O] . Lopez-Herrera, G, Tampella, G, Pan-Hammarström, Q, 2012

机译：LRBA中的有害突变与免疫缺陷和自身免疫综合症有关。

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

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