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List of works by Bianca Tesi

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

scientific article published on 7 July 2017

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.

scientific article published on 6 August 2015

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

scientific article published on 6 March 2018

ARID5B regulates metabolic programming in human adaptive NK cells.

scientific article published on 30 July 2018

An Indian boy with griscelli syndrome type 2: case report and review of literature

scientific article

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

scientific article published on 14 January 2014

Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function

scientific article

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

scientific article published on 18 April 2017

Diversification and Functional Specialization of Human NK Cell Subsets.

scientific article published on 16 October 2015

Epigenetic Regulation of Adaptive NK Cell Diversification

scientific article published on 6 May 2016

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

scientific article published on 01 February 2019

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

scientific article published on 15 February 2017

HLH: genomics illuminates pathophysiological diversity

scientific article published on 01 July 2018

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

scientific article published on 13 January 2015

Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation

scientific article published on 30 March 2014

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia

scientific article published on 13 July 2018

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

scientific article published on 14 March 2014

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

scientific article published on January 2016

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

scientific article published on 28 March 2014

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

scientific article published on 16 July 2015

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

scientific article published on 4 May 2016

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

scientific article published on 18 December 2015

Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies

scientific article

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

scientific article published on 28 May 2015

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

scientific article published on 26 June 2017

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