Department of Pediatrics, Division of Pediatric Critical Care Medicine, Albert Einstein College of Medicine, Children's Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, 10467, USA.
Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT, 06106, USA.
J Clin Immunol. 2021 Aug;41(6):1208-1212. doi: 10.1007/s10875-021-01012-8. Epub 2021 Mar 19.
An analysis of patients in the United States Immunodeficiency Network (USIDNET) registry previously described a discordance in the reported prevalence of humoral immune deficiency in patients with DiGeorge syndrome (DGS) and its treatment. The primary purpose of this study is to evaluate the rates of humoral immunodeficiency and immune globulin replacement therapy (IGRT) use in patients with DiGeorge syndrome in the USIDNET registry as of September 2016, and to correlate IGRT use with prior infections and laboratory evidence of immune deficiency.
Current patients in the USIDNET registry with DGS were identified. Patients who were treated with immune globulin replacement therapy (IGRT) were compared with those who were untreated with respect to their laboratory findings and clinical history.
Four hundred seventy-three patients were identified. The use of IGRT in patients with DGS has increased over time from 3 to 6.6%. IGRT was more common in patients with humoral immune deficiency (18.2% of those with hypogammaglobulinemia, 39.1% of those with documented low vaccine titers), but most patients with evidence of humoral immune deficiency remain untreated with IGRT. Patients treated with IGRT were more likely to have experienced episodes of pneumonia, sepsis, and bacterial skin infections (p < 0.01 for all).
Humoral immune deficiencies were more common among patients with DGS than previously reported. IGRT was used most commonly in patients with DGS who demonstrated frequent or severe bacterial infections. There is still a significant deficit between those with DGS who have laboratory evidence of a humoral immune deficiency and those being treated for it.
先前在美国免疫缺陷网络（USIDNET）注册中心的一项分析显示，DiGeorge 综合征（DGS）患者报告的体液免疫缺陷患病率及其治疗存在差异。本研究的主要目的是评估截至 2016 年 9 月，USIDNET 注册中心 DGS 患者的体液免疫缺陷率和免疫球蛋白替代疗法（IGRT）的使用情况，并将 IGRT 的使用与既往感染和免疫缺陷的实验室证据相关联。
确定 USIDNET 注册中心目前患有 DGS 的患者。将接受免疫球蛋白替代疗法（IGRT）治疗的患者与未接受治疗的患者进行比较，比较其实验室发现和临床病史。
共确定了 473 名患者。DGS 患者中 IGRT 的使用随着时间的推移从 3%增加到 6.6%。IGRT 在有体液免疫缺陷的患者中更为常见（低丙种球蛋白血症患者中占 18.2%，有记录的低疫苗滴度患者中占 39.1%），但大多数有体液免疫缺陷证据的患者仍未接受 IGRT 治疗。接受 IGRT 治疗的患者更有可能经历肺炎、败血症和细菌性皮肤感染（所有感染均 p<0.01）。
与先前报道相比，DGS 患者中更常见体液免疫缺陷。IGRT 最常用于有频繁或严重细菌感染的 DGS 患者。DGS 患者中存在明显的缺陷，即有体液免疫缺陷的实验室证据与接受治疗之间存在差距。
