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236 results on '"Valencic, Erica"'

2. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Author

Rossini, Linda, Ricci, Silvia, Montin, Davide, Azzari, Chiara, Gambineri, Eleonora, Tellini, Marco, Conti, Francesca, Pession, Andrea, Saettini, Francesco, Naviglio, Samuele, Valencic, Erica, Magnolato, Andrea, Baselli, Lucia, Azzolini, Sara, Consolini, Rita, Leonardi, Lucia, D’Alba, Irene, Carraro, Elisa, Romano, Roberta, Melis, Daniela, Stagi, Stefano, Cirillo, Emilia, Giardino, Giuliana, Biffi, Alessandra, Pignata, Claudio, Putti, Maria Caterina, and Marzollo, Antonio

Published
2024
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5. Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series

Author

Naviglio, Samuele, Cicalese, Maria Pia, Rivers, Elizabeth, Ferrua, Francesca, Bonfim, Carmem, Cenciarelli, Sabina, Cheong, Kai-Ning, Faraci, Maura, Giardino, Stefano, Ghosh, Sujal, Lee, Pamela P., Lyra, Paula Teixeira, Meisel, Roland, Sofia, Valentina, Tessitore, Antimo, Tommasini, Alberto, Valencic, Erica, Vallée, Tanja Christine, Volpi, Stefano, Worth, Austen J., Rabusin, Marco, Albert, Michael H., Thrasher, Adrian J., and Aiuti, Alessandro

Abstract

•Patients with Wiskott-Aldrich syndrome can develop inflammatory manifestations poorly controlled by corticosteroid therapy.•Treatment with anti–IL-1 agents resulted in dramatic responses, suggesting an autoinflammatory pathogenesis.

Published
2024
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6. Proangiogenic properties of complement protein C1q can contribute to endometriosis.

Author

Agostinis, Chiara, Toffoli, Miriam, Zito, Gabriella, Balduit, Andrea, Pegoraro, Silvia, Spazzapan, Mariagiulia, Pascolo, Lorella, Romano, Federico, Di Lorenzo, Giovanni, Mangogna, Alessandro, Santin, Aurora, Spedicati, Beatrice, Valencic, Erica, Girotto, Giorgia, Ricci, Giuseppe, Kishore, Uday, and Bulla, Roberta

Subjects
ENDOMETRIOSIS, ENDOTHELIAL cells, UTERUS, COMPLEMENT activation, IMMUNOHISTOCHEMISTRY, PELVIC pain
Abstract

Endometriosis (EM) is defined as the engraftment and proliferation of functional endometrial-like tissue outside the uterine cavity, leading to a chronic inflammatory condition. While the precise etiology of EM remains elusive, recent studies have highlighted the crucial involvement of a dysregulated immune system. The complement system is one of the predominantly altered immune pathways in EM. Owing to its involvement in the process of angiogenesis, here, we have examined the possible role of the first recognition molecule of the complement classical pathway, C1q. C1q plays seminal roles in several physiological and pathological processes independent of complement activation, including tumor growth, placentation, wound healing, and angiogenesis. Gene expression analysis using the publicly available data revealed that C1q is expressed at higher levels in EM lesions compared to their healthy counterparts. Immunohistochemical analysis confirmed the presence of C1q protein, being localized around the blood vessels in the EM lesions. CD68+ macrophages are the likely producer of C1q in the EM lesions since cultured EM cells did not produce C1q in vitro. To explore the underlying reasons for increased C1q expression in EM, we focused on its established pro-angiogenic role. Employing various angiogenesis assays on primary endothelial endometriotic cells, such as migration, proliferation, and tube formation assays, we observed a robust proangiogenic effect induced by C1q on endothelial cells in the context of EM. C1q promoted angiogenesis in endothelial cells isolated from EM lesions (as well as healthy ovary that is also rich in C1q). Interestingly, endothelial cells from EM lesions seem to overexpress the receptor for the globular heads of C1q (gC1qR), a putative C1q receptor. Experiments with siRNA to silence gC1qR resulted in diminished capacity of C1q to perform its angiogenic functions, suggesting that C1q is likely to engage gC1qR in the pathophysiology of EM. gC1qR can be a potential therapeutic target in EM patients that will disrupt C1q-mediated proangiogenic activities in EM. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Siglec‐1, an easy and contributory inflammation marker in rheumatology.

Author

Boz, Valentina, Tesser, Alessandra, Burlo, Francesca, Donadel, Nicola, Pastore, Serena, Amaddeo, Alessandro, Vittoria, Francesca, Padovan, Matteo, Di Rosa, Marianna, Tommasini, Alberto, and Valencic, Erica

Subjects
BLOOD sedimentation, PEDIATRIC rheumatology, INFLAMMATION, C-reactive protein, RHEUMATOLOGY
Abstract

Objectives: Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C‐reactive protein (CRP) are poorly informative about interferon (IFN)‐related disorders. In these conditions, the measure of the interferon score (IS), obtained by measuring the expression of IFN‐stimulated genes, has been proposed. Flow cytometry‐based assays measuring sialic‐acid‐binding Ig‐like lectin 1 (Siglec‐1) expression could be a more practical tool for evaluating IFN‐inflammation. The study compared Siglec‐1 measures with IS and other inflammatory indexes. We compared Siglec‐1 measures with IS and other inflammatory indexes in real‐world paediatric rheumatology experience. Methods: We recruited patients with immuno‐rheumatological conditions, acute infectious illness and patients undergoing orthopaedic surgery as controls. Siglec‐1 expression was measured in all samples, and IS, ESR and CRP were also recorded if available. Results: Overall, 98 subjects were enrolled in the study, with a total of 104 measures of Siglec‐1. Compared with IS, Siglec‐1 expression showed good accuracy (86.0%), specificity (72.7%) and sensitivity (85.7%). The measure of the percentage of Siglec‐1‐positive cells performed best at low levels of IFN‐inflammation, while the measure of mean fluorescence intensity performed best at higher levels. Ex vivo studies on IFN‐stimulated monocytes confirmed this behaviour. There was no link between Siglec‐1 expression and either ESR or CRP, and positive Siglec‐1 results were found even when ESR and CRP were normal. A high Siglec‐1 expression was also recorded in subjects with acute infections. Conclusion: Siglec‐1 measurement by flow cytometry is an easy tool to detect IFN‐related inflammation, even in subjects with normal results of common inflammation indexes. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.

Author

Boz, Valentina, Tesser, Alessandra, Girardelli, Martina, Burlo, Francesca, Pin, Alessia, Severini, Giovanni Maria, De Marchi, Ginevra, Verzegnassi, Federico, Naviglio, Samuele, Tommasini, Alberto, and Valencic, Erica

Subjects
DIAGNOSIS, DELAYED diagnosis, GENETIC disorder diagnosis, LYMPHOCYTE subsets, SYMPTOMS
Abstract

Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression. We studied immune dysregulation diseases in 30 patients with autoimmune or allergic phenotypes, exploiting data from clinics and immunophenotype, genetic and transcriptome investigations, and 6 of them were diagnosed with a monogenic disorder. Our results confirm that a non-negligible number of children with IEIs may present with signs and symptoms of immune dysregulation and share many features with common multifactorial immune conditions. Reaching a genetic diagnosis becomes more likely in the presence of multiple clinical manifestations, especially when in association with abnormalities of lymphocytes subsets and/or immunoglobulins levels. Moreover, 5 of 6 patients that obtained a diagnosis of monogenic disorder received precision therapy, in four cases with a good or moderate response. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Nanotechnology-Based Cisplatin Intracellular Delivery to Enhance Chemo-Sensitivity of Ovarian Cancer

Author

Bortot, Barbara, Mongiat, Maurizio, Valencic, Erica, Dal Monego, Simeone, Licastro, Danilo, Crosera, Matteo, Adami, Gianpiero, Rampazzo, Enrico, Ricci, Giuseppe, Romano, Federico, Severini, Giovanni Maria, Biffi, Stefania, Bortot, B., Mongiat, M., Valencic, E., Dal Monego, S., Licastro, D., Crosera, M., Adami, G., Rampazzo, E., Ricci, G., Romano, F., Severini, G. M., Biffi, S., Bortot, B, Mongiat, M, Valencic, E, Dal Monego, S, Licastro, D, Crosera, M, Adami, G, Rampazzo, E, Ricci, G, Romano, F, Severini, GM, and Biffi, S

Subjects
Medicine (General), Ca125, Drug Resistance, Intracellular Space, epithelial-mesenchymal transition, SKOV3, Down-Regulation, Antineoplastic Agents, Cell Line, Antineoplastic Agent, Mice, Nanoparticle, R5-920, International Journal of Nanomedicine, Ovarian cancer, Cell Line, Tumor, Apoptosis, Cisplatin resistance, Epithelial-mesenchymal transition, Animals, Cell Proliferation, Cisplatin, Drug Carriers, Drug Resistance, Neoplasm, Female, Humans, Nanomedicine, Nanoparticles, Ovarian Neoplasms, Xenograft Model Antitumor Assays, Drug Carrier, skov3, Original Research, Tumor, ca125, Animal, Ovarian Neoplasm, nanoparticle, apoptosis, Apoptosi, ovarian cancer, Neoplasm, cisplatin resistance, Human
Abstract

Barbara Bortot, 1 Maurizio Mongiat, 2 Erica Valencic, 3 Simeone Dal Monego, 4 Danilo Licastro, 4 Matteo Crosera, 5 Gianpiero Adami, 5 Enrico Rampazzo, 6 Giuseppe Ricci, 7, 8 Federico Romano, 7 Giovanni Maria Severini, 1 Stefania Biffi 7 1Department of Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 2Department of Research and Diagnosis, Division of Molecular Oncology, Centro Di Riferimento Oncologico Di Aviano (CRO) IRCCS, Aviano, Italy; 3Department of Pediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 4ARGO Open Lab Platform for Genome Sequencing, AREA Science Park, Trieste, Italy; 5Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy; 6Department of Chemistry “G. Ciamician”, University of Bologna, Bologna, Italy; 7Department of Obstetrics and Gynecology, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 8Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyCorrespondence: Stefania Biffi Email stefania.biffi@burlo.trieste.itBackground: Platinum resistance is a major challenge in the management of ovarian cancer. Even low levels of acquired resistance at the cellular level lead to impaired response to cisplatin. In ovarian cancer intraperitoneal therapy, nanoparticle formulation can improve the cisplatin’s pharmacokinetics and safety profile.Purpose: This work aimed to investigate the chemo-sensitivity of ovarian cancer SKOV3 cells upon short-term (72h) single treatment of cisplatin and cisplatin-loaded biodegradable nanoparticles (Cis-NP). The aim was then to determine the therapeutic properties of Cis-NP in vivo using a SKOV3-luc cells’ xenograft model in mice.Methods: Cell cytotoxicity was assessed after the exposure of the cell culture to cisplatin or Cis-NP. The effect of treatments on EMT and CSC-like phenotype was studied by analyzing a panel of markers by flow cytometry. Intracellular platinum concentration was determined by inductively coupled plasma mass spectrometry (ICS-MS), and gene expression was evaluated by RNAseq analysis. The efficacy of intraperitoneal chemotherapy was evaluated in a SKOV3-luc cells’ xenograft model in mice, through a combination of bioluminescence imaging, histological, and immunohistochemical analyses.Results: We observed in vitro that short-term treatment of cisplatin has a critical role in determining the potential induction of chemoresistance, and a nanotechnology-based drug delivery system can modulate it. The RNAseq analysis underlines a protective effect of nanoparticle system according to their ability to down-regulate several genes involved in chemoresistance, cell proliferation, and apoptosis. The highest intracellular platinum concentration obtained with Cis-NP treatment significantly improved the efficacy. Consistent with in vitro results, we found that Cis-NP treatment in vivo can significantly reduce tumor burden and aggressiveness compared to the free drug.Conclusion: Nanoparticle-mediated cisplatin delivery may serve as an intracellular depot impacting the cisplatin pharmacodynamic performance at cellular levels. These features may contribute to improving the drawbacks of conventional intraperitoneal therapy, and therefore will require further investigations in vivo.Keywords: cisplatin resistance, ovarian cancer, SKOV3, nanoparticle, epithelial-mesenchymal transition, Ca125, apoptosis

Published
2020

14. Group medical information for parents: A COVID‐19 experience between fear of the pandemic and vaccine hesitancy.

Author

Valencic, Erica, Naviglio, Samuele, Ronfani, Luca, Abbracciavento, Giuseppe, and Tommasini, Alberto

Subjects
*VACCINE hesitancy, *MEDICAL personnel, *PARENTS, *VACCINATION of children, *MULTISYSTEM inflammatory syndrome in children
Abstract

Notably, most of the participants reported a reduced fear of vaccination after the Info-Vax meeting, while fear of COVID-19 infection did not change. Even though children and adolescents usually exhibit a milder course of COVID-19, they can develop myocarditis, multisystem inflammatory syndromes in children (MIS-C), and, exceptionally, fatalities. Firstly, the consideration that the most worrying adverse events reported after vaccination could occur with higher frequency and severity after COVID-19 infection, such as myocarditis[2] (65 answers). [Extracted from the article]

Published
2023
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16. GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Author

Bottega, Roberta, primary, Marzollo, Antonio, additional, Marinoni, Maddalena, additional, Athanasakis, Emmanouil, additional, Persico, Ilaria, additional, Bianco, Anna Monica, additional, Faleschini, Michela, additional, Valencic, Erica, additional, Simoncini, Daniela, additional, Rossini, Linda, additional, Corsolini, Fabio, additional, La Bianca, Martina, additional, Robustelli, Giuseppe, additional, Gabelli, Maria, additional, Agosti, Massimo, additional, Biffi, Alessandra, additional, Grotto, Paolo, additional, Bozzi, Valeria, additional, Noris, Patrizia, additional, Burlina, Alberto B., additional, D'Adamo, Adamo Pio, additional, Tommasini, Alberto, additional, Faletra, Flavio, additional, Pastore, Annalisa, additional, and Savoia, Anna, additional

Published
2021
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19. Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier.

Author

Trevisan, Matteo, Kang, Elizabeth M., CGD Consortium, Salton, Francesco, Ruaro, Barbara, Torregiani, Chiara, Confalonieri, Paola, Naviglio, Samuele, Valencic, Erica, Gabrielli, Marco, Parta, Mark, Kelly, Corin, Notarangelo, Luigi D., Malech, Harry L., Tommasini, Alberto, and Confalonieri, Marco

Subjects
CHRONIC granulomatous disease, HEMATOPOIETIC stem cell transplantation, DISEASE vectors, INFORMED consent (Medical law), GRAFT versus host disease
Abstract

HSCT remains the main definitive treatment for X-linked CGD, yet older patients are at greater risk of transplant-related complications and mortality [[3]]. Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease. This suggests that matched HSCT with non-myeloablative conditioning with low dose busulfan and alemtuzumab, combined with an increased stem cell dose and post-transplant cyclophosphamide, may represent a curative option even in high-risk CGD patients at an advanced age. [Extracted from the article]

Published
2022
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26. Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier: Therapeutic Role of Interferon-γ and Hematopoietic Stem Cell Transplantation

Author

Trevisan, Matteo, primary, Kang, Elizabeth, additional, Salton, Francesco, additional, Naviglio, Samuele, additional, Ruaro, Barbara, additional, Confalonieri, Paola, additional, Valencic, Erica, additional, Corin, Kelly, additional, Parta, Mark, additional, Notarangelo, Luigi Daniele, additional, Tommasini, Alberto, additional, Malech, Harry Lewis, additional, and Confalonieri, Marco, additional

Published
2021
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28. Nanotechnology-Based Cisplatin Intracellular Delivery to Enhance Chemo-Sensitivity of Ovarian Cancer

Author

Bortot,Barbara, Mongiat,Maurizio, Valencic,Erica, Dal Monego,Simeone, Licastro,Danilo, Crosera,Matteo, Adami,Gianpiero, Rampazzo,Enrico, Ricci,Giuseppe, Romano,Federico, Severini,Giovanni Maria, Biffi,Stefania, Bortot,Barbara, Mongiat,Maurizio, Valencic,Erica, Dal Monego,Simeone, Licastro,Danilo, Crosera,Matteo, Adami,Gianpiero, Rampazzo,Enrico, Ricci,Giuseppe, Romano,Federico, Severini,Giovanni Maria, and Biffi,Stefania

Abstract

Barbara Bortot, 1 Maurizio Mongiat, 2 Erica Valencic, 3 Simeone Dal Monego, 4 Danilo Licastro, 4 Matteo Crosera, 5 Gianpiero Adami, 5 Enrico Rampazzo, 6 Giuseppe Ricci, 7, 8 Federico Romano, 7 Giovanni Maria Severini, 1 Stefania Biffi 7 1Department of Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 2Department of Research and Diagnosis, Division of Molecular Oncology, Centro Di Riferimento Oncologico Di Aviano (CRO) IRCCS, Aviano, Italy; 3Department of Pediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 4ARGO Open Lab Platform for Genome Sequencing, AREA Science Park, Trieste, Italy; 5Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy; 6Department of Chemistry “G. Ciamician”, University of Bologna, Bologna, Italy; 7Department of Obstetrics and Gynecology, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; 8Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, ItalyCorrespondence: Stefania Biffi Email stefania.biffi@burlo.trieste.itBackground: Platinum resistance is a major challenge in the management of ovarian cancer. Even low levels of acquired resistance at the cellular level lead to impaired response to cisplatin. In ovarian cancer intraperitoneal therapy, nanoparticle formulation can improve the cisplatin’s pharmacokinetics and safety profile.Purpose: This work aimed to investigate the chemo-sensitivity of ovarian cancer SKOV3 cells upon short-term (72h) single treatment of cisplatin and cisplatin-loaded biodegradable nanoparticles (Cis-NP). The aim was then to determine the therapeutic properties of Cis-NP in vivo using a SKOV3-luc cells’ xenograft model in mice.Methods: Cell cytotoxicity was assessed after the exposure of the cell culture to cisplatin or Cis-NP. The effect of treatments on EMT and CSC-like phenotype was studied by analyz

Published
2020

31. Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up

Author

Vecchi Brumatti, Liza, primary, Rosolen, Valentina, additional, Mariuz, Marika, additional, Piscianz, Elisa, additional, Valencic, Erica, additional, Bin, Maura, additional, Athanasakis, Emmanouil, additional, D’Adamo, Pio, additional, Fragkiadoulaki, Eirini, additional, Calamandrei, Gemma, additional, Dinckol, Öykü, additional, Barbone, Fabio, additional, and Ronfani, Luca, additional

Published
2021
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35. Peptide Inhibitors of Bacterial Protein Synthesis with Broad Spectrum and SbmA-Independent Bactericidal Activity against Clinical Pathogens

Author

Mardirossian, Mario, primary, Sola, Riccardo, additional, Beckert, Bertrand, additional, Valencic, Erica, additional, Collis, Dominic W. P., additional, Borišek, Jure, additional, Armas, Federica, additional, Di Stasi, Adriana, additional, Buchmann, Jan, additional, Syroegin, Egor A., additional, Polikanov, Yury S., additional, Magistrato, Alessandra, additional, Hilpert, Kai, additional, Wilson, Daniel N., additional, and Scocchi, Marco, additional

Published
2020
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39. AB1105 A NOVEL AUTOINFLAMMATORY AND LYMPHOPROLIFERATIVE SYNDROME ASSOCIATED WITH PIM1 MUTATIONS

Author

Ferrara, Giovanna, primary, Polizzi, Silvio, additional, Valencic, Erica, additional, Chiocchetti, Annalisa, additional, Vuch, Josef, additional, Pin, Alessia, additional, Piscianz, Elisa, additional, Vozzi, Diego, additional, Pastore, Serena, additional, Tomietto, Paola, additional, Taddio, Andrea, additional, Faletra, Flavio, additional, Dianzani, Umberto, additional, and Tommasini, Alberto, additional

Published
2019
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41. SV40 Infection of Mesenchymal Stromal Cells From Wharton's Jelly Drives the Production of Inflammatory and Tumoral Mediators

Author

Cason, C, Campisciano, Giuseppina, Zanotta, N, Valencic, Erica, Delbue, S, Bella, R, Comar, Manola, Cason, C, Campisciano, Giuseppina, Zanotta, N, Valencic, Erica, Delbue, S, Bella, R, and Comar, Manola

Subjects
Time Factors, Mesenchymal Stromal Cells, Interleukin-12 Subunit p40, Mesenchymal Stem Cells, Cell Separation, Simian virus 40, Viral Load, Cell Transformation, Viral, Real-Time Polymerase Chain Reaction, Virus Replication, Chemokine CXCL9, JC Virus, Up-Regulation, SV40, Cytopathogenic Effect, Viral, DNA, Viral, Host-Pathogen Interactions, Humans, Interleukin-3, Wharton Jelly, Inflammation Mediators, Chemokine CCL5, Cell Line, Transformed
Abstract

The Mesenchymal Stromal Cells from umbilical cord Wharton's jelly (WJSCs) are a source of cells with high potentiality for the treatment of human immunological disorders. Footprints of the oncogenic viruses Simian Virus 40 (SV40) and JC Virus (JCPyV) have been recently detected in human WJSCs specimens. The aim of this study is to evaluate if WJSCs can be efficiently infected by these Polyomaviruses and if they can potentially exert tumoral activity. Cell culture experiments indicated that WJSCs could sustain both SV40 and JCPyV infections. A transient and lytic replication was observed for JCPyV, while SV40 persistently infected WJSCs over a long period of time, releasing a viral progeny at low titer without evident cytopathic effect (CPE). Considering the association between SV40 and human tumors and the reported ability of the oncogenic viruses to drive the host innate immune response to cell transformation, the expression profile of a large panel of immune mediators was evaluated in supernatants by the Bioplex platform. RANTES, IL-3, MIG, and IL-12p40, involved in chronic inflammation, cells differentiation, and transformation, were constantly measured at high concentration comparing to control. These findings represent a new aspect of SV40 biological activity in the humans, highlighting its interaction with specific host cellular pathways. In view of these results, it seems to be increasingly urgent to consider Polyomaviruses in the management of WJSCs for their safely use as promising therapeutic source. J. Cell. Physiol. 232: 3060-3066, 2017. © 2016 Wiley Periodicals, Inc.

Published
2016

46. Neuronal Dysfunction Associated with Cholesterol Deregulation

Author

Marcuzzi, Annalisa, primary, Loganes, Claudia, additional, Valencic, Erica, additional, Piscianz, Elisa, additional, Monasta, Lorenzo, additional, Bilel, Sabrine, additional, Bortul, Roberta, additional, Celeghini, Claudio, additional, Zweyer, Marina, additional, and Tommasini, Alberto, additional

Published
2018
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48. Type I interferon-mediated autoinflammation due to DNase II deficiency

Author

Rodero, Mathieu P., primary, Tesser, Alessandra, additional, Bartok, Eva, additional, Rice, Gillian I., additional, Della Mina, Erika, additional, Depp, Marine, additional, Beitz, Benoit, additional, Bondet, Vincent, additional, Cagnard, Nicolas, additional, Duffy, Darragh, additional, Dussiot, Michael, additional, Frémond, Marie-Louise, additional, Gattorno, Marco, additional, Guillem, Flavia, additional, Kitabayashi, Naoki, additional, Porcheray, Fabrice, additional, Rieux-Laucat, Frederic, additional, Seabra, Luis, additional, Uggenti, Carolina, additional, Volpi, Stefano, additional, Zeef, Leo A H., additional, Alyanakian, Marie-Alexandra, additional, Beltrand, Jacques, additional, Bianco, Anna Monica, additional, Boddaert, Nathalie, additional, Brouzes, Chantal, additional, Candon, Sophie, additional, Caorsi, Roberta, additional, Charbit, Marina, additional, Fabre, Monique, additional, Faletra, Flavio, additional, Girard, Muriel, additional, Harroche, Annie, additional, Hartmann, Evelyn, additional, Lasne, Dominique, additional, Marcuzzi, Annalisa, additional, Neven, Bénédicte, additional, Nitschke, Patrick, additional, Pascreau, Tiffany, additional, Pastore, Serena, additional, Picard, Capucine, additional, Picco, Paolo, additional, Piscianz, Elisa, additional, Polak, Michel, additional, Quartier, Pierre, additional, Rabant, Marion, additional, Stocco, Gabriele, additional, Taddio, Andrea, additional, Uettwiller, Florence, additional, Valencic, Erica, additional, Vozzi, Diego, additional, Hartmann, Gunther, additional, Barchet, Winfried, additional, Hermine, Olivier, additional, Bader-Meunier, Brigitte, additional, Tommasini, Alberto, additional, and Crow, Yanick J., additional

Published
2017
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49. Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical?

Author

Bottega, Roberta, Cappelli, E., Zweyer, Marina, De Rocco, D., Valencic, Erica, Svahn, J., Bortul, Roberta, Nicchia, Elena, Caruso, Paola, Bagnasco, F., Greco, Chiara, Dufour, C., Savoia, Anna, Bottega, Roberta, Cappelli, E., Zweyer, Marina, De Rocco, D., Valencic, Erica, Svahn, J., Bortul, Roberta, Nicchia, Elena, Caruso, Paola, Bagnasco, F., Greco, Chiara, Dufour, C., and Savoia, Anna

Subjects
Fanca anemia
Published
2014

50. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

Author

Lougaris, Vassilios, Faletra, Flavio, Lanzi, Gaetana, Vozzi, Diego, Marcuzzi, Annalisa, Valencic, Erica, Piscianz, Elisa, Bianco, AnnaMonica, Girardelli, Martina, Baronio, Manuela, Loganes, Claudia, Fasth, Anders, Salvini, Filippo, Trizzino, Antonino, Moratto, Daniele, Facchetti, Fabio, Giliani, Silvia, Plebani, Alessandro, and Tommasini, Alberto

Published
2015
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