干扰素 α/β 受体 α 链（IFNAR1）缺陷致噬血细胞性淋巴组织细胞增生症 1 例报告
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
机构信息
Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany.
出版信息
Clin Infect Dis. 2022 Jan 7;74(1):136-139. doi: 10.1093/cid/ciaa1790.
We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live-attenuated viral vaccination. Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.
我们报告了一例儿童致命性全身炎症反应综合征（systemic hyperinflammation）病例，该患儿干扰素 α/β 受体 α 链（IFNAR1）完全缺失，推测由减毒活病毒疫苗接种所诱发。这种病理性炎症反应过度，符合噬血细胞性淋巴组织细胞增生症（hemophagocytic lymphohistiocytosis）的诊断标准，是Ⅰ型干扰素免疫缺陷相关的一种新出现的表型。
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