Mohammadinejad Payam, Mirminachi Babak, Sadeghi Bamdad, Movahedi Masoud, Gharagozlou Mohammad, Mohammadi Javad, Abolhassani Hassan, Rezaei Nima, Aghamohammadi Asghar
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Immunol. 2014 Dec;11(4):282-91.
Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy.
To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital.
All PID cases with a confirmed diagnosis, according to the criteria of International Union of Immunological Societies, who were referred to the Children's Medical Center in Tehran, Iran, between March 2006 and March 2013 were enrolled in this retrospective cohort study.
Three-hundred and seven PID patients were investigated. Predominantly antibody deficiencies were the most common group of PID observed in 118 cases (38.4%), followed by the well-defined syndromes with immunodeficiency in 52 (16.9%), congenital defects of phagocyte in 45 (14.7%), combined immunodeficiencies in 36 (11.7%), autoinflammatory disorders in 34 (11.4%), immune dysregulation in 11 (3.6%), complement deficiencies in 7 (2.3%), and defects in innate immunity in 3 (1%). Selective IgA deficiency was the most prevalent disorder which affected 46 individuals (14.9%). The median diagnostic delay was 15 months.
Increased awareness and availability of diagnostic tests could result in the better recognition of more undiagnosed PID cases and a decrease in diagnostic delay.
原发性免疫缺陷病（PID）是一组遗传性疾病，其特征为易患严重和反复感染、自身免疫性疾病、淋巴增殖性疾病及恶性肿瘤。
评估在一家转诊儿科医院确诊的PID患者的人口统计学和临床数据。
根据国际免疫学会联盟的标准确诊的所有PID病例，于2006年3月至2013年3月期间转诊至伊朗德黑兰儿童医学中心，纳入本回顾性队列研究。
共调查了307例PID患者。主要抗体缺陷是最常见的PID类型，118例（38.4%），其次是明确的免疫缺陷综合征52例（16.9%），吞噬细胞先天性缺陷45例（14.7%），联合免疫缺陷36例（11.7%），自身炎症性疾病34例（11.4%），免疫失调11例（3.6%），补体缺陷7例（2.3%），先天免疫缺陷3例（1%）。选择性IgA缺乏是最常见的疾病，影响46人（14.9%）。诊断延迟的中位数为15个月。
提高认识和增加诊断检测的可及性可能会更好地识别更多未诊断的PID病例，并减少诊断延迟。
