Department of Pediatric Allergy and Immunology, University of Health Science, Antalya Education and Research Hospital, Antalya, Turkey.
Department of Pediatrics, University of Health Science, Antalya Education and Research Hospital, Antalya, Turkey.
J Clin Immunol. 2024 Oct 15;45(1):25. doi: 10.1007/s10875-024-01823-5.
Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases characterized by impaired immune system function. This prospective study aimed to determine the frequency, characteristics, and clinical course of IEI patients admitted to the pediatric intensive care unit (PICU) and identify mortality-related factors. Using a comprehensive immunological evaluation protocol, we screened 753 PICU admissions for potential IEIs during three years. Patients with pre-existing IEI diagnoses, chronic diseases, ongoing chronic medication regimens, other known comorbidities, trauma cases, post-surgical cases, and poisonings were excluded. Thirty-three patients were newly diagnosed with IEIs during or as a result of their PICU stay, representing an incidence of 4.39%. The most common disorders were immunodeficiencies with immune dysregulation (48.5%), followed by combined immunodeficiencies (24.2%). Severe viral infections (61%) and life-threatening infections (51.7%) were the most frequent warning signs. Only 31% of patients exhibited at least two Jeffrey Modell Foundation warning signs. The mortality rate was 58%, highlighting the need for early diagnosis and treatment. Newborn screening and family segregation studies are crucial to improving outcomes for IEI patients in intensive care settings.
先天性免疫缺陷（IEI）是一组具有免疫系统功能障碍特征的遗传疾病。本前瞻性研究旨在确定儿科重症监护病房（PICU）收治的 IEI 患者的频率、特征和临床病程，并确定与死亡率相关的因素。我们使用综合免疫评估方案，在三年时间内对 753 例 PICU 入院患者进行了潜在 IEI 的筛查。排除了具有预先存在的 IEI 诊断、慢性疾病、正在进行的慢性药物治疗方案、其他已知合并症、创伤病例、手术后病例和中毒病例的患者。33 例患者在 PICU 住院期间或之后被新诊断为 IEI，发病率为 4.39%。最常见的疾病是免疫失调伴免疫缺陷（48.5%），其次是联合免疫缺陷（24.2%）。最常见的警告信号是严重的病毒感染（61%）和危及生命的感染（51.7%）。只有 31%的患者至少出现了 2 个 Jeffrey Modell 基金会的警告信号。死亡率为 58%，突出表明需要早期诊断和治疗。新生儿筛查和家族隔离研究对于改善重症监护环境中 IEI 患者的预后至关重要。
