关键词: STAT1 Cytomegalovirus Gene mutation Hypereosinophilia Infant

Mesh : Humans Female STAT1 Transcription Factor / genetics Infant, Newborn Cytomegalovirus Infections / complications Mutation Eosinophilia / genetics

来  源:   DOI:10.1186/s12887-024-04846-4   PDF(Pubmed)

Abstract:
Hypereosinophilia is a rare presentation in all age groups, particularly when it is severe, persistent, and progressive. We describe the clinical characteristics and course of severe hypereosinophilia in a full-term Saudi female neonate. A febrile respiratory illness evolved with a progressive increase in peripheral blood leukocyte and eosinophil counts, reaching 44.9% of leukocytes and an absolute value of 57,000 cells/µl. Different etiological examinations (for viral, bacterial, immunodeficiency, hyper IgE syndrome, gene mutations) revealed extremely high CMV antigenemia and a homozygous mutation in the STAT1 gene. Anhelation was relieved by oxygen and anti-viral treatment. Steroids brought a dramatic response in peripheral blood counts within 24 h. After a 6-week course of antiviral and steroid treatment at home, she had an excellent general condition. Conclusion: Although a rare pathology, it is important to consider genetic disorders when there is an atypical immune response to viral infections.
摘要:
嗜酸性粒细胞增多在所有年龄段都是罕见的,尤其是严重的时候,持久性,和进步。我们描述了足月沙特女性新生儿严重嗜酸性粒细胞增多的临床特征和病程。发热性呼吸系统疾病随着外周血白细胞和嗜酸性粒细胞计数的逐渐增加而发展。达到44.9%的白细胞和57,000个细胞/μl的绝对值。不同的病因检查(对于病毒,细菌,免疫缺陷,高IgE综合征,基因突变)揭示了极高的CMV抗原血症和STAT1基因的纯合突变。氧气和抗病毒治疗缓解了焦虑。类固醇在24小时内对外周血计数产生了巨大的反应。在家中进行为期6周的抗病毒和类固醇治疗后,她的一般情况很好。结论:虽然病理罕见,当存在对病毒感染的非典型免疫反应时,考虑遗传性疾病是很重要的。
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