Stefania Fontana

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Whole plasmids are used in both Agrobacterium-mediated transformation and direct DNA transfer, generally leading to the integration of vector backbone sequences into the host genome along with the transgene(s). This is undesirable, as vector backbone sequences often have negative effects on transgene or endogenous gene expression, and can promote transgene(More)
Common variable immunodeficiency disease (CVID) is a primary immune disorder affecting B cells and characterized by hypogammaglobulinemia and recurrent infections. To elucidate the clinical and immunological heterogeneity of this condition, we have studied B and T cell subsets in 25 CVID patients. In eleven of them, we observed a remarkable relative(More)
Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome-lysosome-related organelles. Lack of the beta3A subunit of this complex causes Hermansky-Pudlak syndrome type 2, an autosomal recessive disease characterized by partial albinism, prolonged bleeding(More)
The treatment of children affected by severe congenital neutropenia (SCN) with G-CSF strongly reduces the risk of sepsis by reversing neutropenia. However, SCN patients who respond to the treatment with the growth factor still have an elevated risk of succumbing to sepsis. Because the disease is usually caused by heterozygous mutations of ELA2, a gene(More)
Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal tract. The disease is caused by hypomorphic mutations in recombination-activating genes that impair but do not abolish the process of VDJ recombination, leading to the generation of autoreactive T cells with a highly restricted(More)
We have recently identified 2 patients with a rare autosomal recessive form of hyper IgM disease, known as HIGM3, caused by mutations in the CD40 gene. These patients had opportunistic infections observed on X-linked hyper IgM syndrome (HIGM), suggesting that the CD40-CD40 ligand interaction is important for promoting T-cell-mediated immunity. To evaluate(More)
PURPOSE OF REVIEW A decade after the availability of hematopoietic growth factors, the long-term outcome of severe congenital neutropenia has dramatically changed. The prolonged survival of neutropenic patients receiving hematopoietic growth factors has drawn attention to the heterogeneity of this disease and to the complications of treatment. The dose of(More)
word count: 199; Total text word count: 4881 Figures: 7. Corresponding author: Raffaele Badolato, MD, PhD, Clinica Pediatrica, Universita' di Brescia, c/o Spedali Civili, 25123 Brescia, Italy; Phone: +39 030301158; Fax: +39 0303388099; email: badolato@med.unibs.it Abbreviations: DCs : dendritic cells; MLR : mixed lymphocytes reaction; IPCs : interferon(More)
word count: 199; Total text word count: 4881 Figures: 7. Corresponding author: Raffaele Badolato, MD, PhD, Clinica Pediatrica, Universita' di Brescia, c/o Spedali Civili, 25123 Brescia, Italy; Phone: +39 030301158; Fax: +39 0303388099; email: badolato@med.unibs.it Abbreviations: DCs : dendritic cells; MLR : mixed lymphocytes reaction; IPCs : interferon(More)
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