Department of Pulmonary, Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.
BMC Pediatr. 2019 Nov 4;19(1):410. doi: 10.1186/s12887-019-1729-7.
Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections.
In this study, 112 children with PID were diagnosed and classified based on the 2017 criteria presented by the International Union of Immunological Societies (IUIC) in a single tertiary care center from January 2013 to November 2018. We retrospectively studied the clinical features of those PID children and followed-up them as well.
It was revealed that male/female ratio was 6:1. The most frequent diagnosed PID was severe combined immunodeficiency (SCID) (28.6%) and hyper-IgM (HIGM) syndrome (24.1%), followed by predominantly antibody deficiencies (17.8%). Combined immunodeficiencies with associated or syndromic features (12.5%) and congenital defects of phagocyte number, function, or both (10.7%) were less common in our center compared with SCID and HIGM syndrome. Besides, we found that 20 children (17.8%) had a positive family history of PID, and almost all cases (97.3%) had a history of recurrent infection. Recurrent respiratory tract infection was among the most common symptoms, followed by the bacterial infection of the skin and mucous membranes and diarrhea. Additionally, adverse event following immunization (AEFI) was found in 20.5% of the patients, and immune disorder was commonly observed in PID patients. In the present study, 47 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), and 2-year overall survival (OS) rate for these patients was 78.7% (37/47). It is noteworthy that OS widely differed among PID patients with different phenotypes who underwent allo-HSCT. The 2-year OS rate for SCID, HIGM syndrome, and the remaining of PID patients who underwent allo-HSCT was 14.3, 83.3, and 100%, respectively.
PID typically emerges at early age. Recurrent infection and serious infection were the most common clinical manifestations. Allo-HSCT is a relatively effective therapeutic strategy for PID patients.
原发性免疫缺陷病（PID）是一种由免疫系统遗传缺陷引起的疾病，会增加感染的易感性。
本研究在单中心回顾性研究中，对 2013 年 1 月至 2018 年 11 月期间，112 例 PID 患儿根据国际免疫学会联合会（IUIC）2017 年标准进行诊断和分类。研究人员回顾性分析了这些 PID 患儿的临床特征并进行了随访。
男女比例为 6:1。最常见的诊断为严重联合免疫缺陷（SCID）（28.6%）和高免疫球蛋白 M（HIGM）综合征（24.1%），其次是主要抗体缺陷（17.8%）。伴有或伴发综合征特征的联合免疫缺陷（12.5%）和吞噬细胞数量或功能先天性缺陷（10.7%）较 SCID 和 HIGM 综合征少见。此外，研究人员发现 20 例（17.8%）患儿有 PID 阳性家族史，几乎所有病例（97.3%）均有反复感染史。反复呼吸道感染是最常见的症状，其次是皮肤和黏膜细菌感染和腹泻。此外，20.5%的患儿发生了免疫接种后不良反应（AEFI），PID 患儿中常见免疫紊乱。本研究中，47 例患儿接受了异基因造血干细胞移植（allo-HSCT），这些患儿的 2 年总生存率（OS）为 78.7%（37/47）。值得注意的是，不同表型的 PID 患儿接受 allo-HSCT 后的 OS 差异很大。SCID、HIGM 综合征和接受 allo-HSCT 的剩余 PID 患儿的 2 年 OS 率分别为 14.3%、83.3%和 100%。
PID 通常在早期发病。反复感染和严重感染是最常见的临床表现。allo-HSCT 是 PID 患儿的一种相对有效的治疗策略。
