Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis.

IF 7.2 2区医学 Q1 IMMUNOLOGY

Journal of Clinical Immunology Pub Date : 2024-10-15 DOI:10.1007/s10875-024-01823-5

Fatih Celmeli, Ayse Oz, Hasan Serdar Kihtir, Ebru Atike Ongun, Aysel Tekmenuray-Unal, Serdar Ceylaner, Ayca Aykut, Sultan Aydin, Safa Baris

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Abstract

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.

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儿科重症监护中的先天性免疫错误：发病率、特征和预后。

先天性免疫错误（IEI）是一类以免疫系统功能受损为特征的遗传性疾病。这项前瞻性研究旨在确定儿科重症监护室（PICU）收治的先天性免疫错误患者的发病频率、特征和临床病程，并找出与死亡率相关的因素。我们采用综合免疫学评估方案，在三年内对 753 名入住 PICU 的潜在 IEI 患者进行了筛查。筛查对象不包括已确诊 IEI 的患者、慢性病患者、正在接受长期药物治疗的患者、其他已知合并症患者、外伤患者、手术后患者和中毒患者。有 33 名患者在 PICU 住院期间或住院后新诊断出 IEI，发病率为 4.39%。最常见的疾病是免疫缺陷和免疫失调（48.5%），其次是联合免疫缺陷（24.2%）。严重病毒感染（61%）和危及生命的感染（51.7%）是最常见的预警信号。只有 31% 的患者表现出至少两个杰弗里-莫德尔基金会警告信号。死亡率为 58%，这凸显了早期诊断和治疗的必要性。新生儿筛查和家庭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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Immunology 医学-免疫学

CiteScore

12.20

自引率

9.90%

发文量

218

审稿时长

2 months

期刊介绍： The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.