Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Clin Immunol. 2022 Nov;244:109131. doi: 10.1016/j.clim.2022.109131. Epub 2022 Sep 27.
Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.
单基因免疫调节紊乱疾病（MIDD）是由免疫耐受缺陷引起的。本研究旨在提高对中东和北非（MENA）地区 MIDD 的患病率、谱、遗传模式和结局的认识。对来自 11 个 MENA 国家（伊朗、土耳其、科威特、阿曼、阿尔及利亚、埃及、阿拉伯联合酋长国、突尼斯、约旦、卡塔尔和阿塞拜疆）的 MIDD 患者进行回顾性评估。共纳入 343 名 MIDD 患者（58%为男性，42%为女性），中位（IQR）年龄为 101（42-192）个月。最常见的缺陷基因是 LRBA（23.9%）、LYST（8.2%）和 RAB27A（7.9%）。最常见的首发和总表现分别是感染（32.2%和 75.1%）、自身免疫（18.6%和 41%）和器官肿大（13.3%和 53.8%）。治疗包括免疫球蛋白替代疗法（53%）、造血干细胞移植（HSCT）（14.3%）、免疫抑制剂（36.7%）和手术（3.5%）。29 名（59.2%）患者在 HSCT 后存活。除感染并发症外，自身免疫和器官肿大也可能是 MIDD 的首发或主要表现。
