Department of Pediatric Allergy and Immunology, Ankara University School of Medicine, Cebeci, 06590, Ankara, Turkey.
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27.
LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations.
Seven affected individuals from five families were assessed retrospectively in this study.
Of the seven patients with LRBA deficiency, four had homozygous, and two had compound heterozygous mutations. One patient remained disease free until the last follow-up (age 17 years). The most common clinical manifestations of the six symptomatic patients were organomegaly (6/6), autoimmunity (6/6), and chronic diarrhea (5/6). Recurrent infectious episodes were observed in three patients. None of the patients had hypogammaglobulinemia at presentation. B cell subpopulation analysis revealed low numbers of switched-memory B cell numbers in two of the four tested patients. During the disease course, three of the patients died, two of them underwent successful hematopoietic stem cell transplantation (HSCT) from matched sibling donors, and one is under abatacept therapy.
LRBA defects should always be kept in mind as a differential diagnosis for patients with autoimmune disease affecting multiple organs, chronic diarrhea, and organomegalies. In our experience, early HSCT is a life-saving therapeutic strategy.
脂多糖反应性米色样锚蛋白（LRBA）缺乏症是一种归类为伴有自身免疫表现和炎症性肠病的常见可变免疫缺陷的原发性免疫缺陷症；然而，其临床谱已被扩展。在此，我们报告了来自单一中心的一组土耳其 LRBA 缺陷患者，展示了多样化的临床表现。
在这项研究中，我们回顾性评估了来自五个家庭的七名受影响个体。
在七名 LRBA 缺乏症患者中，有四名患者为纯合子，有两名患者为复合杂合子突变。一名患者在最后一次随访（17 岁）时仍未患病。六名有症状患者中最常见的临床表现是器官肿大（6/6）、自身免疫（6/6）和慢性腹泻（5/6）。有三名患者出现反复感染发作。在出现时，没有患者表现出低丙种球蛋白血症。对四名接受测试的患者中的两名患者进行 B 细胞亚群分析，结果显示转换记忆 B 细胞数量减少。在疾病过程中，有三名患者死亡，其中两名患者接受了来自匹配的同胞供体的造血干细胞移植（HSCT），而一名患者正在接受阿巴西普治疗。
对于自身免疫性疾病影响多个器官、慢性腹泻和器官肿大的患者，应始终考虑 LRBA 缺陷作为鉴别诊断。根据我们的经验，早期 HSCT 是一种挽救生命的治疗策略。
