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

doi:10.1080/08880018.2021.1928802

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

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English
Pages (from-to)	74-79
Number of pages	6
Journal	Pediatric Hematology and Oncology
Volume	39
Issue number	1
DOIs	https://doi.org/10.1080/08880018.2021.1928802
State	Published - 2022
Externally published	Yes

Keywords

Combined immunodeficiency
HSV-1
Rubinstein Taybi syndrome
hemophagocytic lymphohystiocytosis
syndromic immunodeficiency

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10.1080/08880018.2021.1928802

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title = "Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient",

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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AU - Saettini, F.

AU - Radaelli, S.

AU - Ocello, L.

AU - Ferrari, G. M.

AU - Corti, P.

AU - Dell’Acqua, F.

AU - Ippolito, D.

AU - Foresti, S.

AU - Gervasini, C.

AU - Badolato, R.

AU - Biondi, A.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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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KW - HSV-1

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KW - hemophagocytic lymphohystiocytosis

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Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient

Abstract

Keywords

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