Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient

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.

Automated summary

Rubinstein-Taybi syndrome is an autosomal dominant disorder caused by variants in CREBBP or EP300, characterized by distinctive features, intellectual disability, and immunodeficiency. The clinical presentation is expanding to include complications such as autoinflammatory, autoimmune, and infectious conditions, and prompt treatment can reduce mortality rates.