Department of Internal Medicine, Baylor College of Medicine, Houston, TX, USA.
Department of Allergy & Immunology, The Massachusetts General Hospital, Boston, MA, USA.
J Clin Immunol. 2021 Feb;41(2):374-381. doi: 10.1007/s10875-020-00916-1. Epub 2020 Nov 17.
Primary immunodeficiency disorders (PIDs) affect immune system development and/or function, increase infection susceptibility, and cause dysregulation or both. Recognition of PID requires assessment about the normal state of infection frequency and microbiology. To help clarify infection characteristics, we use data mined from the US Immunodeficiency Network (USIDNET) registry among primary antibody deficiency (PAD) patients before diagnosis.
We analyzed PAD patient data from the USIDNET registry prior to ultimate diagnosis. Our analysis included basic descriptive statistics for 8 major infection subtypes and significance testing for comparing infection rate by specific organisms across 7 distinct PAD subtypes.
Of 2038 patients reviewed, 1259 (61.8%) had infections reported prior to diagnosis. Most (77.4%) had four or less reported infections prior to diagnosis; however, some suffered up to 16 infections. Infection patterns differed across the PAD subtypes. Patients with agammaglobulinemia differed significantly from patients with all other forms of PAD studied in at least one infection category, whereas patients with CVID differed from 3 other PAD categories in at least one infection category. Patterns of infections in patients with hypogammaglobulinemia, specific antibody deficiency, and transient hypogammaglobulinemia were less unique. For each of the infection types, bacteria were the most prevalent cause of disease.
Our data shows that distinct subtypes of PAD display unique infection patterns. We also show that patients with agammaglobulinemia suffer more invasive infections and differ most significantly from all other forms of PAD studied. Our analysis has broad implications about infection surveillance, progression, and vulnerability by PAD subtype.
原发性免疫缺陷病（PID）影响免疫系统的发育和/或功能，增加感染易感性，并导致失调或两者兼而有之。PID 的识别需要评估正常的感染频率和微生物学状态。为了帮助阐明感染特征，我们使用从美国免疫缺陷网络（USIDNET）登记处挖掘的数据，该登记处是在原发性抗体缺陷（PAD）患者确诊之前。
我们分析了 USIDNET 登记处的 PAD 患者数据，在最终诊断之前。我们的分析包括 8 种主要感染亚型的基本描述性统计数据，并对 7 种不同 PAD 亚型的特定生物体的感染率进行了显著性检验。
在审查的 2038 名患者中，有 1259 名（61.8%）在诊断前报告了感染。大多数（77.4%）在诊断前报告了四个或更少的感染；然而，有些患者遭受了多达 16 次感染。感染模式在 PAD 亚型之间存在差异。在至少一个感染类别中，无丙种球蛋白血症患者与所有其他形式的 PAD 患者明显不同，而 CVID 患者与其他 3 种 PAD 类别在至少一个感染类别中不同。低丙种球蛋白血症、特异性抗体缺陷和短暂性低丙种球蛋白血症患者的感染模式不那么独特。对于每种感染类型，细菌是最常见的疾病原因。
我们的数据表明，不同亚型的 PAD 表现出独特的感染模式。我们还表明，无丙种球蛋白血症患者遭受更具侵袭性的感染，与所有其他形式的 PAD 患者差异最大。我们的分析对感染监测、进展和 PAD 亚型的脆弱性具有广泛的意义。
