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.
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient / F. Saettini, S. Radaelli, L. Ocello, G.M. Ferrari, P. Corti, F. Dell'Acqua, D. Ippolito, S. Foresti, C. Gervasini, R. Badolato, A. Biondi. - In: PEDIATRIC HEMATOLOGY AND ONCOLOGY. - ISSN 0888-0018. - (2021), pp. 1-6. [Epub ahead of print] [10.1080/08880018.2021.1928802]
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
C. Gervasini;
2021
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.File | Dimensione | Formato | |
---|---|---|---|
Saettini et al. 2021.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
1.11 MB
Formato
Adobe PDF
|
1.11 MB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.