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List of works by Elena Sieni

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis

scientific article published on 27 June 2014

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis

scientific article published on 15 July 2015

Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.

scientific article

Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.

scientific article published on March 2014

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity

scientific article published on 12 October 2011

Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature

scientific article published in August 2009

Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning

scientific article published on 16 April 2014

Favourable outcome of Coronavirus-19 in a 1-year-old girl with acute myeloid leukaemia and severe treatment-induced immunosuppression

scientific article published on 05 May 2020

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

scientific article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

scientific article

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

scientific article published on 13 January 2015

Kikuchi disease, macrophage activation syndrome, and systemic juvenile arthritis: a new case associated with a mutation in the perforin gene

scientific article published on 14 May 2015

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

scientific article published in August 2014

Neuromyelitis optica, atypical hemophagocytic lymphohistiocytosis and heterozygous perforin A91V mutation

scientific article published on 15 August 2017

Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis

scientific article published on 01 June 2012

Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy.

scientific article published in February 2018

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

scientific article published on 11 October 2014

Risk factors for early death in children with haemophagocytic lymphohistiocytosis

scientific article

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

scientific article

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