List of works - Gigliola Di Matteo

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

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

scientific article published on 29 August 2014

Deregulated expression of the RanBP1 gene alters cell cycle progression in murine fibroblasts ⬇️

scientific article published on October 1, 1997

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

scientific article published on 25 August 2011

Expression of the murine RanBP1 and Htf9-c genes is regulated from a shared bidirectional promoter during cell cycle progression ⬇️

scientific article published on July 1, 1997

Inflammatory Bowel Disease in Chronic Granulomatous Disease: an emerging problem over a twenty years' experience

scientific article published on 5 October 2017

Interactions with Single-stranded and Double-stranded DNA-binding Factors and Alternative Promoter Conformation upon Transcriptional Activation of the Htf9-a/RanBP1 and Htf9-c Genes ⬇️

scientific article published on January 2, 1998

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

scientific article published on 21 July 2018

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

scientific article

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

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

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

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

scientific article published on 29 November 2019

Structural defects and variations in the HIV-1 nef gene from rapid, slow and non-progressor children

article

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