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.
Saettini, F., Radaelli, S., Ocello, L., Ferrari, G., Corti, P., Dell'Acqua, F., et al. (2022). Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient. PEDIATRIC HEMATOLOGY AND ONCOLOGY, 39(1), 74-79 [10.1080/08880018.2021.1928802].
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
Saettini F.
;Ferrari G. M.;Corti P.;Ippolito D.;Biondi A.
2022
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.
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