狼性炎模式和对DNASE1L3变体患者的I型干扰素的反应:报告三例病例

Stefano Volpi1, Maria L Angelotti2, Giulia Palazzini2

  • 1Center for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of Genova, Genova, Italy.

概括

DNASE1L3中的遗传变异会导致儿童严重的狼性炎,导致功能衰竭. 这表明DNASE1L3相关的脏疾病与I型干扰素反应有关,这证明了有针对性的治疗方法.

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