ABSTRACT

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency.

摘要

LPS 反应性米色样锚蛋白 (LRBA) 缺陷是一种单基因原发性免疫缺陷，其特征在于与免疫失调相关的临床表现的异质谱。在这项研究中，我们报告了对来自无关家庭的两名伊朗患者的临床、免疫学和遗传评估，他们均患有反复呼吸道感染、生长迟缓、间质性肺病、自身免疫性血细胞减少症和低丙种球蛋白血症。还观察到一名患者出现肺脓肿，另一名患者出现持续性肠病。进一步调查在外显子（c.2166_2766del）和内含子（c.4730-3 T> G）的透露致病突变LRBA基因。这些结果可以进一步阐明 LRBA 缺乏症的临床表型和相关遗传因素。