7 results on '"Puliafito, Pamela"'
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2. Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients
- Author
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Di Cesare, Silvia, Puliafito, Pamela, Ariganello, Paola, Marcovecchio, Genni Enza, Mandolesi, Martina, Capolino, Rossella, Digilio, Maria Cristina, Aiuti, Alessandro, Rossi, Paolo, and Cancrini, Caterina
- Published
- 2015
- Full Text
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3. Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
- Author
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Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Aiuti, Alessandro, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, and Rossi, Paolo
- Published
- 2014
- Full Text
- View/download PDF
4. Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
- Author
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Cirillo, Emilia, primary, Giardino, Giuliana, additional, Gallo, Vera, additional, Puliafito, Pamela, additional, Azzari, Chiara, additional, Bacchetta, Rosa, additional, Cardinale, Fabio, additional, Cicalese, Maria Pia, additional, Consolini, Rita, additional, Martino, Silvana, additional, Martire, Baldassarre, additional, Molinatto, Cristina, additional, Plebani, Alessandro, additional, Scarano, Gioacchino, additional, Soresina, Annarosa, additional, Cancrini, Caterina, additional, Rossi, Paolo, additional, Digilio, Maria Cristina, additional, and Pignata, Claudio, additional
- Published
- 2014
- Full Text
- View/download PDF
5. Rapid T-cell Receptor CD4+ Repertoire Reconstitution and Immune Recovery in Unrelated Umbilical Cord Blood Transplanted Pediatric Leukemia Patients
- Author
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Finocchi, Andrea, primary, Romiti, Maria Luisa, additional, Cesare, Silvia Di, additional, Puliafito, Pamela, additional, Pensieroso, Simone, additional, Rana, Ippolita, additional, Pinto, Rita, additional, Cancrini, Caterina, additional, Rossi, Giulio De, additional, Caniglia, Maurizio, additional, and Rossi, Paolo, additional
- Published
- 2006
- Full Text
- View/download PDF
6. Rapid T-cell Receptor CD4Repertoire Reconstitution and Immune Recovery in Unrelated Umbilical Cord Blood Transplanted Pediatric Leukemia Patients
- Author
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Finocchi, Andrea, Romiti, Maria Luisa, Cesare, Silvia Di, Puliafito, Pamela, Pensieroso, Simone, Rana, Ippolita, Pinto, Rita, Cancrini, Caterina, Rossi, Giulio De, Caniglia, Maurizio, and Rossi, Paolo
- Abstract
Umbilical cord blood transplantation has been successfully employed for treatment of many immune and hematologic disorders. The aim of this study was to evaluate the quality of immune reconstitution after umbilical cord blood transplantation in 6 leukemia children. T-cell receptor Vβ third complementary region spectratyping was used for monitoring the contribution of the thymic pathway in patients’ immune reconstitution. Absolute numbers of lymphocyte subsets (T, B, and natural killer), and lymphoproliferative in vitro response to mitogens, recovered within 12 months after transplantation. Furthermore, an overall diversification of T-cell receptor complexity in the repopulating T cells, with a polyclonal Gaussian profiles in most (74) of total families was observed. Noteworthy, we showed a wider and more rapid reconstitution of T-cell receptor CD4T cell families compared with T-cell receptor CD8T ones still exhibiting some perturbations at 24 months. These data show that umbilical cord blood transplantation allows immune reconstitution already within 12 months with generation of newly diversified CD4T lymphocyte subsets.
- Published
- 2006
- Full Text
- View/download PDF
7. Clinical features and follow-up in patients with 22q11.2 deletion syndrome
- Author
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Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG
- Subjects
Male ,Pediatrics ,22q11.2 deletion ,Delayed Diagnosis ,Time Factors ,Chromosomes, Human, Pair 22 ,Developmental Disabilities ,digeorge syndrome ,Sex Factor ,Severity of Illness Index ,Retrospective Studie ,DiGeorge syndrome ,Early Diagnosi ,Age Factor ,Prospective Studies ,Neonatal hypocalcemia ,Prospective cohort study ,Child ,medicine.diagnostic_test ,Delayed Diagnosi ,Primary immune disorders ,Age Factors ,del 22q ,MIM ,Abnormalities, Multiple ,Adolescent ,Adult ,Child, Preschool ,DiGeorge Syndrome ,Early Diagnosis ,Female ,Follow-Up Studies ,Genetic Testing ,Humans ,Infant ,Infant, Newborn ,Monitoring, Physiologic ,Retrospective Studies ,Risk Assessment ,Sex Factors ,Young Adult ,Disease Progression ,Cohort ,Abnormalities ,Multiple ,Pediatrics, Perinatology and Child Health ,Human ,medicine.medical_specialty ,Time Factor ,Monitoring ,Developmental Disabilitie ,Italian Association of Pediatric Haematology and Oncology ,Context (language use) ,Chromosomes ,Follow-Up Studie ,Severity of illness ,medicine ,22q11DS ,22q11.2 deletion syndrome ,AIEOP ,Mendelian Inheritance in Man ,Preschool ,Physiologic ,Genetic testing ,Settore MED/38 - Pediatria Generale e Specialistica ,business.industry ,Retrospective cohort study ,medicine.disease ,Newborn ,Prospective Studie ,Pair 22 ,business - Abstract
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.
- Published
- 2014
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