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List of works by Silvia Di Cesare

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.

scientific article published on 3 October 2016

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients.

scientific article published on 9 June 2015

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

scientific article

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.

scientific article published on 29 August 2014

Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?

scientific article

Early-onset monocyte–B–natural killer–dendritic cells’ deficiency successfully treated with hematopoietic stem cell transplantation

scientific article published on 25 August 2011

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells

scientific article published on 15 November 2020

Expansion of activated regulatory T cells inversely correlates with clinical severity in septic neonates

scientific article published on 12 January 2016

First Case of Patient With Two Homozygous Mutations in and Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia

article

Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children

scientific article published on 29 September 2018

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene

scientific article

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

scientific article published on 26 March 2019

Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent

scientific article published on 2 February 2018

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

scientific article published on 15 February 2019

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene

scientific article published on 21 July 2018

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

scientific article published on 21 October 2016

Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.

scientific article

Longitudinal Evaluation of Immune Reconstitution and B-cell Function After Hematopoietic Cell Transplantation for Primary Immunodeficiency.

scientific article

Lymphoid EVA1 expression is required for DN1-DN3 thymocytes transition

scientific journal article

NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential

scientific article published on 18 November 2019

NK cells of HIV-1-infected patients with poor CD4+ T-cell reconstitution despite suppressive HAART show reduced IFN-γ production and high frequency of autoreactive CD56bright cells.

scientific article

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

scientific article published on 01 May 2019

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

scientific article published on 30 October 2019

Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells.

scientific article published on 22 December 2017

Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies

scientific article published on 29 November 2019

Production and Characterization of Monoclonal Antibodies Against DNA Single Ring Diamines Adducts ⬇️

scientific article published on 01 April 1988

Recognition and killing of tumour cells expressing heat shock protein 65 kD with immunotoxins containing saporin ⬇️

scientific article published on September 1, 1992

Regulation of Kit Expression in Early Mouse Embryos and ES Cells

scientific article published on 28 January 2019

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

scientific article published on 28 October 2020

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction.

scientific article published on 14 September 2017

Surgical site infections in HIV-infected patients: Results from an Italian prospective multicenter observational study

article

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

article

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

scientific article published on 27 December 2015

The impact of active HIV-1 replication on the physiological age-related decline of immature-transitional B-cells in HIV-1 infected children.

scientific article published in August 2010

Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids

scientific article published on 05 April 2022

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