Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit,Pediatric Allergy and Immunology

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Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit
Pediatric Allergy and Immunology ( IF 4.4 ) Pub Date : 2023-12-21 , DOI: 10.1111/pai.14066
Elham Rayzan _{1,

2} , Mona Mirbeyk ₃ , Parmida Sadat Pezeshki _{3,

4} , Masoud Mohammadpour ₅ , Bahareh Yaghmaie ₅ , Seyed Abbas Hassani ₅ , Meisam Sharifzadeh ₅ , Leila Tahernia ₅ , Nima Rezaei _{3,

6,

7}

Affiliation

Whole-exome sequencing (WES) provides a powerful diagnostic tool for identifying primary immunodeficiency diseases (PIDs). This study explores the utility of this approach in uncovering previously undiagnosed PIDs in children with community-acquired sepsis (CAS), with a medical history of recurrent infections or a family history of PIDs.

中文翻译：

全外显子组测序可识别儿科重症监护室收治的社区获得性脓毒症儿童中未确诊的原发性免疫缺陷病

全外显子组测序 (WES) 为识别原发性免疫缺陷疾病 (PID) 提供了强大的诊断工具。本研究探讨了这种方法在发现患有社区获得性败血症 (CAS)、有反复感染病史或有 PID 家族史的儿童中先前未诊断的 PID 方面的效用。

更新日期：2023-12-24

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