Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait.
Front Immunol. 2019 Jul 24;10:1754. doi: 10.3389/fimmu.2019.01754. eCollection 2019.
To present the report from the Kuwait National Primary Immunodeficiency Registry between 2004 and 2018. The patients were followed prospectively between January 2004 and December 2018 and their collected data included sociodemographic, diagnosis, clinical presentation, laboratory tests, and treatment. A total of 314 PID patients (165 males and 149 females) were registered during the study period. Most of the patients ( = 287, 91.4%) were Kuwaiti nationals and the prevalence among Kuwaitis was 20.27/100,000 with a cumulative incidence of 24.96/100,000 Kuwaitis. The distribution of the patients according to PID categories was as follow: immunodeficiencies affecting cellular and humoral immunity, 100 patients (31.8%); combined immunodeficiencies with associated syndromic features, 68 patients (21.7%); predominantly antibody deficiencies, 56 patients (17.8%); diseases of immune dysregulation, 47 patients (15%); congenital defects of phagocyte number or function, 20 patients (6.4%); autoinflammatory disorders, 1 patient (0.3%); and complement deficiencies, 22 patients (7%). The mean age of the patients at onset of symptoms was 26 months while the mean age at diagnosis was 53 months and the mean delay in diagnosis was 27 months. Most of the patients ( = 272, 86%) had onset of symptoms before the age of 5 years. Parental consanguinity rate within the registered patients was 78% and a positive family history of PID was noticed in 50% of the patients. Genetic testing was performed in 69% of the patients with an overall diagnostic yield of 90%. Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by an autosomal recessive pattern. Intravenous immunoglobulins and stem cell transplantation were used in 58% and 25% of the patients, respectively. There were 81 deaths (26%) among the registered patients with a mean age of death of 25 months. PID is not infrequent in Kuwait and the reported prevalence is the highest in the literature with increased proportion of more severe forms. Collaborative efforts including introduction of newborn screening should be implemented to diagnose such cases earlier and improve the quality of life and prevent premature deaths.
报告 2004 年至 2018 年期间科威特国家原发性免疫缺陷登记处的情况。对 2004 年 1 月至 2018 年 12 月期间接受前瞻性随访的患者进行了研究，收集的数据包括社会人口统计学、诊断、临床表现、实验室检查和治疗情况。研究期间共登记了 314 名 PID 患者（男 165 例，女 149 例）。大多数患者（=287 例，91.4%）为科威特国民，科威特人的患病率为 20.27/100000，累积发病率为 24.96/100000 科威特人。根据 PID 类别对患者的分布情况如下：影响细胞和体液免疫的免疫缺陷，100 例（31.8%）；伴有综合征特征的联合免疫缺陷，68 例（21.7%）；主要抗体缺陷，56 例（17.8%）；免疫失调性疾病，47 例（15%）；吞噬细胞数量或功能的先天性缺陷，20 例（6.4%）；自身炎症性疾病，1 例（0.3%）；和补体缺陷，22 例（7%）。患者症状发作时的平均年龄为 26 个月，诊断时的平均年龄为 53 个月，诊断平均延迟 27 个月。大多数患者（=272 例，86%）在 5 岁之前出现症状。登记患者中父母近亲结婚率为 78%，50%的患者有 PID 家族史。对 69%的患者进行了基因检测，总体诊断率为 90%。在 46 个不同的基因中发现了突变，超过 90%的报道的遗传缺陷是通过常染色体隐性模式传递的。静脉内免疫球蛋白和干细胞移植分别用于 58%和 25%的患者。在登记的患者中，有 81 人死亡（26%），死亡时的平均年龄为 25 个月。PID 在科威特并不少见，报告的患病率是文献中最高的，更严重形式的比例增加。应实施包括新生儿筛查在内的合作努力，以便更早地诊断此类病例，提高生活质量并预防过早死亡。
