Abstract

Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, intellectual disability and immunodeficiency. Here we report on one RSTS patient who experienced hemophagocytic lymphohystiocytosis (HLH) and disseminated herpes virus 1 ( HSV-1) disease. The clinical picture of RSTS is expanding to include autoinflammatory, autoimmune, and infectious complications. Prompt treatment of HLH and disseminated HSV-1 can lower the mortality rate of these life-threatening conditions.

摘要

Rubinstein-Taybi 综合征 (RSTS) 是一种常染色体显性遗传疾病，由CREBBP或EP300的变异引起。受影响的个体表现出独特的颅面特征、大拇指和/或幻觉、智力障碍和免疫缺陷。在这里，我们报告了一名患有噬血细胞性淋巴组织细胞增多症 (HLH) 和传播性疱疹病毒 1 (HSV-1) 疾病的 RSTS 患者。RSTS 的临床表现正在扩展到包括自身炎症、自身免疫和感染性并发症。及时治疗 HLH 和传播的 HSV-1 可以降低这些危及生命的疾病的死亡率。