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.
Combined immunodeficiency; hemophagocytic lymphohystiocytosis; HSV-1; Rubinstein Taybi syndrome; syndromic immunodeficiency
Settore MED/03 - Genetica Medica
21-mag-2021
Article (author)
File in questo prodotto:
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

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/869329
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 1
  • ???jsp.display-item.citation.isi??? 2
social impact