Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis

IF 4.2 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI:10.1016/j.mrrev.2025.108564

Saba Fekrvand , Zahra Hamidi Esfahani , Mohammadmehdi Yarahmadi , Ali Saeedi-Boroujeni , Helia Salehi , Ali Hakimelahi , Amir Almasi-Hashiani , Mahshid Rahmati , Sanaz Afshar-Ghasemlou , Najmeh Nameh Goshay Fard , Fateme Tarighat Monfared , Ehsan Khoshnezhad Afkham , Nazanin Fathi , Tannaz Moeini Shad , Fateme Babaha , Farzad Nazari , Matineh Nirouei , Amir Salehi Farid , Negin Sanadgol , Hosein Rafiemanesh , Reza Yazdani

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引用次数: 0

Abstract

Background

Patients with inborn errors of immunity (IEI) experience severe infectious and non-infectious complications, leading to an increased risk of mortality. Delayed diagnosis or misdiagnosis significantly contributes to the heightened mortality rates observed in IEI patients.

Objectives

This study systematically reviews the causes of mortality in IEI patients with a meta-analysis to determine the mortality rate among patients with various IEI.

Methods

Embase, ISI Web of Science, PubMed, and Scopus were searched (up to July 2024) using terms related to IEI and mortality.

Results

A total of 12,581 deceased IEI patients were included, with an overall reported mortality rate of 24.0 % (95 % confidence interval: 23.0–26.0 %) among all published IEI cases. This represents an approximately 27-fold higher mortality rate among IEI patients compared to the mean global mortality rate (24 % vs. 0.874 %). Severe combined immunodeficiency, chronic granulomatous disease, and ataxia-telangiectasia had the highest numbers of reported deceased cases (2304, 962, and 820 cases, respectively). However, familial hemophagocytic lymphohistiocytosis exhibited the highest mortality rate (49.0 %). The most common causes of death were infections, transplant-related mortality and non-infectious pulmonary complications, (3429, 2749, and 1141 cases), respectively. Among infectious causes of death, COVID-19 infection accounted for 10.8 % (370 cases).

Conclusion

This study identifies specific types of IEI with the highest mortality rates and numbers, alongside immune component defects most strongly associated with increased mortality. Patients with immune dysregulation, defects in cellular immunity, and phagocyte function were particularly linked to higher mortality rates, underscoring the urgent need for improved management strategies for these IEIs.

查看原文本刊更多论文

先天性免疫缺陷的死亡率和死亡原因：系统回顾和荟萃分析。

背景：先天性免疫错误（IEI）患者会出现严重的传染性和非传染性并发症，导致死亡风险增加。延迟诊断或误诊显著提高了IEI患者的死亡率。目的：本研究通过荟萃分析系统地回顾了IEI患者的死亡原因，以确定各种IEI患者的死亡率。方法：检索Embase， ISI Web of Science， PubMed和Scopus（截至2024年7月），使用与IEI和死亡率相关的术语。结果：共纳入12,581例IEI死亡患者，在所有已发表的IEI病例中，报告的总死亡率为24.0 %（95% %可信区间：23.0-26.0 %）。与全球平均死亡率相比，IEI患者的死亡率大约高出27倍（24 %对0.874 %）。严重联合免疫缺陷、慢性肉芽肿病和共济失调毛细血管扩张的死亡病例最多（分别为2304例、962例和820例）。家族性噬血细胞淋巴组织细胞病死亡率最高（49.0 %）。最常见的死亡原因分别是感染、移植相关死亡和非感染性肺部并发症（3429例、2749例和1141例）。在感染性死亡原因中，COVID-19感染占10.8 %（370例）。结论：本研究确定了特定类型的IEI具有最高的死亡率和数量，以及与死亡率增加最密切相关的免疫成分缺陷。免疫失调、细胞免疫缺陷和吞噬细胞功能缺陷的患者尤其与较高的死亡率有关，这突出表明迫切需要改进这些肠内感染的管理策略。

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

Mutation Research-Reviews in Mutation Research 生物-毒理学

CiteScore

12.20

自引率

1.90%

发文量

审稿时长

15.7 weeks

期刊介绍： The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.