Azizi Gholamreza, Abolhassani Hassan, Zaki-Dizaji Majid, Habibi Sima, Mohammadi Hamed, Shaghaghi Mohammadreza, Yazdani Reza, Anaya Juan-Manuel, Rezaei Nima, Hammarström Lennart, Aghamohammadi Asghar
a Non-Communicable Diseases Research Center , Alborz University of Medical Sciences , Karaj , Iran.
b Research Center for Immunodeficiencies, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
Immunol Invest. 2018 Jul;47(5):457-467. doi: 10.1080/08820139.2018.1446978. Epub 2018 Mar 12.
Polyautoimmunity is defined as the presence of more than one autoimmune disorder in a single patient. Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) deficiency is one of the monogenic causes of polyautoimmunity. The aim of this study was to report the characteristics of polyautoimmunity in patients with LRBA deficiency.
A total of 14 LRBA deficiency patients with confirmed autoimmunity were enrolled in this study. For those patients with polyautoimmunity, demographic information, clinical records, laboratory, and molecular data were collected. We also compared our results with the currently reported patients with LRBA deficiency associated with polyautoimmunity.
In 64.2% (9 out of 14) of patients, autoimmunity presented as polyautoimmunity. In these patients, autoimmune cytopenias were the most frequent complication, observed in seven patients. Three patients presented with four different types of autoimmune conditions. The review of the literature showed that 41 of 72 reported LRBA deficient patients (74.5%) had also polyautoimmunity, with a wide spectrum of autoimmune diseases described. Hematopoietic stem cell transplantation is increasingly used as the treatment for patients with severe polyautoimmunity associated to LRBA deficiency.
Mutation in LRBA gene is one of the causes of monogenic polyautoimmunity. Awareness of this association is important in order to make an early diagnosis and prompt treatment.
多自身免疫性被定义为单一患者存在一种以上自身免疫性疾病。脂多糖(LPS)反应性米色样锚定蛋白(LRBA)缺乏是多自身免疫性的单基因病因之一。本研究的目的是报告LRBA缺乏患者的多自身免疫性特征。
本研究共纳入14例确诊为自身免疫性疾病的LRBA缺乏患者。对于那些有多自身免疫性的患者,收集了人口统计学信息、临床记录、实验室和分子数据。我们还将我们的结果与目前报道的与多自身免疫性相关的LRBA缺乏患者进行了比较。
64.2%(14例中的9例)的患者自身免疫性表现为多自身免疫性。在这些患者中,自身免疫性血细胞减少是最常见的并发症,7例患者出现该并发症。3例患者出现了4种不同类型的自身免疫性疾病。文献综述显示,72例报道的LRBA缺乏患者中有41例(74.5%)也存在多自身免疫性,描述了广泛的自身免疫性疾病。造血干细胞移植越来越多地被用作治疗与LRBA缺乏相关的严重多自身免疫性患者的方法。
LRBA基因突变是单基因多自身免疫性的病因之一。认识到这种关联对于早期诊断和及时治疗很重要。