Ghaith Adi, Zaki Obaid, Deema Hassan Hafez, Asrar Mohammed Al Shahrani, Assalh Ali Nahass, Hajer Abu Saud, Faten Ahmed Alkateb
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引用次数: 0
摘要
接种麻疹疫苗对于控制疾病和预防严重并发症至关重要。然而，先天性免疫错误患者也可能出现不良反应。本病例报告详细描述了一名十个月大的女性接种麻疹疫苗后出现的严重反应，她的 IFNAR2 基因发生同源突变，导致免疫缺陷-45。接种疫苗后，她出现了病毒血症、脑膜脑炎和多器官衰竭。基因分析发现，IFNAR2 基因存在意义不明的变异 (VUS)，而该基因对 I 型干扰素 (IFN-I) 信号转导至关重要。该病例强调了将基因筛查纳入高危人群疫苗接种计划的重要性。它展示了基因突变与疫苗免疫反应之间的复杂关系。
Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review.
Receiving the measles vaccination is crucial for controlling the disease and preventing severe complications. However, adverse reactions can occur in individuals with inborn errors of immunity. This case report details a severe reaction to the measles vaccine in a ten-month-old female with a homozygous mutation in the IFNAR2 gene, leading to immunodeficiency-45. Following vaccination, she developed viremia, meningoencephalitis, and multi-organ failure. Genetic analysis identified a Variant of Uncertain Significance (VUS) in the IFNAR2 gene, which is essential for type I interferon (IFN-I) signaling. This case highlights the importance of incorporating genetic screening into vaccination programs for individuals at risk. It demonstrates the complex relationship between genetic mutations and the immune responses to the vaccines.
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.
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