Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Department of Dermatology, Children's Hospital Los Angeles, Los Angeles, California, USA.
Pediatr Dermatol. 2024 Jan-Feb;41(1):112-114. doi: 10.1111/pde.15411. Epub 2023 Aug 12.
A 3-week-old baby with hydrops fetalis, acute respiratory failure, and shock of unknown etiology developed a diffuse, pustular rash with worsening inflammatory markers and respiratory status despite antimicrobials. Whole exome sequencing revealed a de novo, frameshift mutation in the SAM9DL gene, leading to the diagnosis of SAMD9L-associated autoinflammatory disease.
一名 3 周大的婴儿患有胎儿水肿、急性呼吸衰竭和原因不明的休克，尽管使用了抗生素，仍出现弥漫性脓疱样皮疹，炎症标志物和呼吸状况恶化。全外显子组测序显示 SAM9DL 基因存在新生的框移突变，导致诊断为 SAMD9L 相关自身炎症性疾病。
