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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
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A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

机译：与子宫内疾病相关的白介素1受体拮抗剂的新突变

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Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine onset, death and multiorgan involvement in a prematurely born baby. The protein prediction model indicated that the novel Q119X mutation would result in a nonfunctional protein by impairing the ability of the IL-1Ra to bind and antagonize signaling through the IL-1R. Since the disorder may mimic severe bacterial infections and the treatment with anakinra is life saving, we intend to raise awareness of the syndrome and the possibility of a founder mutation that may lead to the diagnosis of additional cases in Turkey. The clinical suspicion of DIRA is critical to avoid improper management of the patients with antibiotics alone and death from multiorgan failure.
机译：IL-1受体拮抗剂（DIRA）的缺乏是一种最近描述的罕见的自身炎症性疾病，由IL1RN中功能突变的丧失导致，导致IL-1途径的激活受到抑制。我们描述了一种新型的无意义的IL1RN基因突变，与早产儿的子宫内发作，死亡和多器官受累有关。蛋白质预测模型表明，新的Q119X突变将通过削弱IL-1Ra结合和拮抗通过IL-1R的信号传导的能力而导致无功能的蛋白质。由于该疾病可能模仿严重的细菌感染，而使用类似烟碱的治疗可以挽救生命，因此，我们打算提高对该综合征的认识以及创始人突变的可能性，从而有可能在土耳其诊断出更多病例。 DIRA的临床怀疑对于避免对单独使用抗生素的患者进行不当管理以及因多器官衰竭导致的死亡至关重要。

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