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4. Immunologia e allergologia pediatrica

Author

Ugazio AG, Marseglia GL, Pignata C, Alberto Giovanni Ugazio, Gian Luigi Marseglia, Ugazio, Alberto Giovanni, Ugazio, Ag, Marseglia, Gl, and Pignata, C

Published
2017

5. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study

Author

Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigators, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, Cazzola G.A., PESSION, ANDREA, Quinti., I, Soresina, A., Guerra, A., Rondelli, R., Spadaro, Giuseppe, Agostini, C., Milito, C., Trombetta, A. C., Visentini, M., Martini, H., Plebani, A., Fiorilli, M., De Mattia, D., Martire, B., Cardinale, F., Ranieri, G., Silvestri, F., Masi, M., Pession, A., Cossu, F., Anastasio, E., Schillirò, G., Matucci, A., Vultaggio, A., Aricò, M., Pietrogrande, M. C., Delle Piane, R. M., Panisi, C., Cambiaghi, G., Pignata, Claudio, Putti, M. C., Trizzino, A., Bertolini, P., Consolini, R., Ugazio, A. G., Duse, M., Iacobini, M., Moschese, V., Cancrini, C., Finocchi, A., Pesce, A. M., Cagliuso, M., Conti, V., Granata, G., Mitrevski, M., Cecere, F., Tovo, P. A., Martino, S., Montin, D., Nespoli, L., Marinoni, M., Pellegrini, F. P., Cazzola, G. A., Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigator, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Pession A, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, and Cazzola GA.

Subjects
Male, bronchiectasis, X-linked agammaglobulinemia, Comorbidity, Gastroenterology, Immunoglobulin G, 0302 clinical medicine, Agammaglobulinemia, Risk Factors, Immunology and Allergy, Prospective Studies, Child, Prospective cohort study, 0303 health sciences, biology, Incidence, common variable immunodeficiency, Middle Aged, 3. Good health, Treatment Outcome, Italy, Female, Intravenous, Adult, x-linked agammaglobulinemia, medicine.medical_specialty, immunoglobulin replacement, Adolescent, effectiveness, iga, Immunology, Disease-Free Survival, Injections, Databases, 03 medical and health sciences, Immunoglobulin replacement, common variable immunodeficiency, X-linked agammaglobulinemia, bronchiectasis, IgA, effectiveness, Internal medicine, medicine, Humans, Risk factor, Preschool, Factual, Aged, 030304 developmental biology, Settore MED/38 - Pediatria Generale e Specialistica, Bronchiectasis, business.industry, Common variable immunodeficiency, Infant, Pneumonia, X-Linked, medicine.disease, Databases, Factual, Injections, Intravenous, Child, Preschool, Immunoglobulin A, Follow-Up Studies, Common Variable Immunodeficiency, Genes, X-Linked, Genes, biology.protein, Trough level, business, 030215 immunology
Abstract

A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently < 400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level < 7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.

Published
2011

6. Pediatric allergy and immunology in Italy

Author

Tozzi, Ae, Armenio, L, Bernardini, R, Boner, Attilio, Calvani, M, Cardinale, F, Cavagni, G, Dondi, A, Duse, M, Fiocchi, A, Marseglia, Gl, del Giudice MM, Muraro, A, Pajno, Gb, Paravati, F, Peroni, Diego, Tripodi, S, Ugazio, Ag, Indinnimeo, L., Tozzi A., Armenio L., Bernardini R., Boner A., Calvani M., Cardinale F., Cavagni G., Dondi A., Duse M., Fiocchi A., Marseglia G.L., Miraglia del Giudice M., Muraro A., Pajno G.B., Paravati F., Peroni D., Tripodi S., Ugazio A.G., Indinnimeo L., Tozzi, Ae, Armenio, L, Bernardini, R, Boner, A, Calvani, M, Cardinale, F, Cavagni, G, Dondi, A, Duse, M, Fiocchi, A, Marseglia, Gl, MIRAGLIA DEL GIUDICE, Michele, Muraro, A, Pajno, Gb, Paravati, F, Peroni, D, Tripodi, S, Ugazio, Ag, and Indinnimeo, L.

Subjects
public health, Rhinitis, Allergic, Perennial, asthma, Adolescent, atopic eczema, Administration, Sublingual, Italy, allergic rhinoconjunctivitis, ITALIAN PUBLIC HEALTHCARE SYSTEM, Pediatrics, Dermatitis, Atopic, immunology, Allergy and Immunology, Prevalence, Humans, Antigens, education, Child, allergy, Societies, Medical, childhood, Conjunctivitis, Allergic, epidemiology, allergic respiratory disease, italy, Immunotherapy
Abstract

In Italy, according to the International Study on Asthma and Allergies in Child- hood study, the prevalence of current asthma, allergic rhinoconjunctivitis, and atopic eczema in 2006 was 7.9%, 6.5%, and 10.1% among children aged 6–7 and 8.4%, 15.5%, and 7.75% among children aged 13–14 yr. University education in this field is provided by the Postgraduate Schools of Pediatrics and those of Aller- gology and Clinical Immunology, as well as several annual Master courses. The Ital- ian Society of Pediatric Allergology and Immunology (SIAIP) was founded in 1996 and counts about 1000 members. SIAIP promotes evidence-based management of allergic children and disseminates information to patients and their families through a quite innovative website and the National Journal ‘Rivista Italiana di Allergologia Pediatrica’. In the last decade, four major regional, inter-regional, and national web-based networks have been created to link pediatric allergy centers and to share their clinical protocols and epidemiologic data. In addition, National Registers of Primary Immune-deficiencies and on Pediatric HIV link all clinical excellence cen- ters. Research projects in the field of pediatric allergy and immunology are founded by the Italian Ministry of Education, University and Research (MIUR) and by the National Research Council (CNR), but the overall investments in this research area are quite low. Only a handful Italian excellence centers participate in European Pro- jects on Pediatric Allergy and Immunology within the 7th Framework Program. The European Academy of Allergy and Clinical Immunology currently hosts two Italians in its Executive Committee (EC) and one in the EC of the Pediatric Section; moreover, major European Academy of Allergy and Clinical Immunology meetings and courses in the area of pediatrics (e.g., PAAM, Venice, 2009) have been held in Italy in the last 3 yr. Italian hallmarks in the management of allergic diseases in childhood are a quite alive and spread interest in Molecular Allergology and a remarkable predominance of sublingual (SLIT) compared to the subcutaneous (SCIT) immunotherapy.

Published
2011

7. Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus

Author

Brusco, Alfredo, Cariota, U., Bottaro, A., Boccazzi, Cleide, Plebani, A., Ugazio, Ag, Galanello, R., VAN LEEUWEN AM, Delange, Gg, and Depelchin, S.

Subjects
Gene Rearrangement, IGHC, Immunoglobulins, multigene family, genomic rearrangement, Genes, Immunoglobulin, Genotype, Immunology, Immunoglobulin Class Switching, Pedigree, Haplotypes, Multigene Family, Humans, Immunology and Allergy, Immunoglobulin Constant Regions, Immunoglobulin Heavy Chains, Gene Deletion
Abstract

The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE analysis in two unrelated Italian families we found an abnormal high m.w. band, inherited in a Mendelian fashion. To assess the extension of the haplotype we performed Southern blot analysis using several specific Ig H chain C probes. In both cases, the haplotype turned out to be triplicated, with three copies of the genes from A1 to E. In one family segregation of a duplication from EP to G4 was also observed. Analysis of polymorphic loci suggests that the two triplications are of independent origin. Serological detection of IgA2 allotypes demonstrated the functional activity of the genes at the 3' end of the triplicated locus, ruling out any major effect of these large genomic rearrangements on Ig class switching. Furthermore, the triplicated haplotype does not seem to give rise to any clinically significant immunological impairment or increase in Ig serum concentrations.

Published
1994
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11. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicelter study

Author

Martire, B, Rondelli, R, Soresina, A, Pignata, C, Broccoletti, T, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, Rm, Pietrogrande, Mc, Trizzino, A, Di Bartolomeo, P, Martino, Silvana, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pierani, P, Putti, Mc, Stabile, A, Notarangelo, Ld, Ugazio, Ag, Plebani, A, De Mattia, D, Ipinet, Martire, B, Rondelli, R, Soresina, A, Pignata, Claudio, Broccoletti, Teresa, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, R. M., Pietrogrande, M. C., Trizzino, A, DI BARTOLOMEO, P, Martino, S, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pievani, P, Putti, M. C., Stabile, A, Notarangelo, L. D., Ugazio, A. G., Plebani, A, and DE MATTIA, D.

Subjects
Male, absence of side effects, Granulomatous Disease, Chronic, cause of death, Chronic granulomatous disease, Anti-Infective Agents, amphotericin B, cotrimoxazole, fluconazole, gamma interferon, itraconazole, voriconazole, adolescent, adult, article, brain abscess, child, chronic granulomatous disease, clinical feature, clinical trial, cohort analysis, conjunctivitis, controlled clinical trial, controlled study, dermatitis, disease course, drug efficacy, drug withdrawal, enteritis, enterocolitis, fatigue, female, fever, follow up, function test, granulocyte function, headache, human, incidence, liver abscess, long term care, lung abscess, lymphadenitis, male, multicenter study, myalgia, osteomyelitis, otitis, pneumonia, priority journal, prophylaxis, prospective study, rash, septicemia, single drug dose, sinusitis, skin abscess, survival rate, treatment duration, Antifungal Agents, Antiviral Agents, Bacterial Infections, Child, Child, Preschool, Cohort Studies, Female, Follow-Up Studies, Humans, Infant, Interferon Type II, Italy, Itraconazole, Kaplan-Meiers Estimate, Retrospective Studies, Treatment Outcome, Trimethoprim-Sulfamethoxazole Combination, Immunopathology, Chronic, Interferon gamma (IFNγ), Cohort, clinica features, Cohort study, medicine.medical_specialty, Cotrimoxazole (CTX), Immunology, Interferon-gamma, Settore MED/38 - Pediatria Generale e Specialistica, Follow up, Itraconazole (ITRA), medicine.disease, Kaplan-Meier Estimate, Skin infection, Immunology and Allergy, Mortality rate, Granulomatous Disease, medicine.drug, Chronic Granulomatous Disease (CGD), Infections, Internal medicine, Trimethoprim, Sulfamethoxazole Drug Combination, medicine, Preschool, business.industry, Retrospective cohort study, Surgery, business
Abstract

A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.4 years; mean duration of follow-up was 10.4 years. Lung and skin infections were the most frequent manifestations both prior to diagnosis and during follow-up. Aspergillus species was the first cause of infection and of death in our cohort. The mortality rate was 13%. Long term prophylaxis with IFNgamma did not significantly change the rate of total infection per patient-year compared to controls (p=0.07). Our data provide clear evidence that protocols of continuing intensive surveillance and monitoring of compliance with anti-infective regimens may significantly improve the quality of life and long-term survival in patients with CGD. No evidence justifying long-term prophylaxis with IFNgamma was obtained.

Published
2008

12. Definitive results of a multicentric prospective surveillance study of the collateral effects of the use of immunoglobulin by an intravenous route

Author

Soresina, A, Rondelli, R, Quinti, Isabella, Agostini, C, Spadaro, G, Marzollo, R, Martino, S, Pietrogrande, Mc, Putti, C, Trizzino, N, Moschese, V, Consolini, R, Pession, A, Ugazio, Ag, A., Soresina, R., Rondelli, I., Quinti, C., Agostini, Spadaro, Giuseppe, R., Marzollo, S., Martino, M. C., Pietrogrande, C., Putti, N., Trizzino, V., Moschese, R., Consolini, A., Pession, and A. G., Ugazio

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
2007

15. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

Author

Notarangelo, Ld, Giliani, S, Mazza, C, Mella, P, Savoldi, G, Rodriguez Pérez, C, Mazzolari, E, Fiorini, M, Duse, Marzia, Plebani, A, Ugazio, Ag, Vihinen, M, Candotti, F, and Schumacher, Rf

Subjects
Male, T-Lymphocytes, Janus Kinase 3, Receptors, Interleukin-2, Protein-Tyrosine Kinases, Models, Biological, Killer Cells, Natural, Phenotype, Mutation, Cytokines, Humans, Female, Severe Combined Immunodeficiency, Signal Transduction
Abstract

Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma(c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK-SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma(c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma(c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization of the defects has been instrumental in the development of novel therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy.

Published
2001

28. [Allergy and infections: a rediscovery for pathogenesis and therapy]

Author

Ugazio, Ag and Duse, Marzia

Subjects
Hypersensitivity, Immediate, Recurrence, Hypersensitivity, Humans, Disease Susceptibility, Allergens, Immunoglobulin E, Child, Communicable Diseases
Abstract

The relationship between allergy and infection is well known. However only the recent discover of the mechanisms underlie to allergic inflammation gave us the interpretative key to understand the reciprocal influence. In the onset of allergic diseases infections may play whether a predisposing or protective role, while in the induction of relapses, infections play the major role, priming the inflammation, which among allergic children immediately, switches in allergic inflammation.

Published
1996

29. Vaccinations in children with clinical or social problems

Author

Principi, N., Plebani, A., Azzari, C., Gabutti, G., Barberi, I., Bartolozzi, G., Belloni, A., Borsellino, G., Caccamo, L., Carapella, E., Cascio, G., Castello, M., Cavagni, G., Comodo, N., Crovari, P., Duse, M., Faldella, G., Franco, E., Galli, E., Giammanco, G., Grossi, A., Moschese, V., Nespoli, L., Novembre, E., Oppizio, M., Pietrogrande, C., Pignatta, C., PAOLO ROSSI, Salpietro, C., Salvioli, Gp, Tovo, Pa, Tozzi, A., and Ugazio, Ag

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
1996

31. [The child with recurrent infections: a problem of pediatric practice]

Author

Duse, Marzia, Soresina, Ar, Ruggeri, L, Crispino, P, Girelli, F, and Ugazio, Ag

Subjects
Diagnosis, Differential, Recurrence, Immunologic Deficiency Syndromes, Humans, Disease Susceptibility, Child, Respiratory Tract Infections
Abstract

A wide range of topics can be included under the heading of recurrent infections in children. This discussion focuses on 1) the definition of recurrent infection and physiopathogenetic mechanisms predisposing to; 2) controversies in the management of upper respiratory tract infections; 3) recurrent upper and lower respiratory infections in immunocompromised hosts, emphasizing advances in diagnosis and treatment of "mild" immunodeficiencies such as IgG subclass deficiency or antibody deficiency in normogammaglobulimia, trying to define an operative flow chart.

Published
1994

36. In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)

Author

Wengler, Georg S, primary, Lanfranchi, Arnalda, additional, Frusca, Tiziana, additional, Verardi, Rosanna, additional, Neva, Arabella, additional, Brugnoni, Duilio, additional, Giliani, Silvia, additional, Fiorini, Maurilia, additional, Mella, Patrizia, additional, Guandalini, Fabiola, additional, Mazzolari, Evelina, additional, Notarangelo, LD, additional, Pecorelli, Sergio, additional, Porta, Fulvio, additional, and Ugazio, AG, additional

Published
1996
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41. Deficiency of Neutrophil Bactericidal Activity in Term and Preterm Infants

Author

Alberto Chiara, Antonella Gasparoni, G. Mingrat, Ugazio Ag, Giorgio Rondini, Gaetano Chirico, M. Marconi, and De Amici M

Subjects
Longitudinal study, Micrococcaceae, Neutrophil bactericidal activity, biology, Streptococcus, Follow up studies, Streptococcaceae, biology.organism_classification, medicine.disease_cause, Staphylococcus aureus, Recien nacido, Pediatrics, Perinatology and Child Health, Immunology, medicine, Developmental Biology
Abstract

The present longitudinal study of 40 healthy term infants and 20 preterm infants shows that neutrophil bactericidal activity against Staphylococcus aureus and Streptococcus faecalis is transiently but significantly impaired in term infants during the 1st week of life. The deficiency is more severe and prolonged in preterm infants, and may contribute to the neonate’s increased susceptibility to infections.

Published
1985
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44. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

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

45. Risultati definitivi dello studio prospettico multicentrico di sorveglianza degli effetti collaterali nell'utilizzo delle immunoglobuline per via endovenosa

Author

Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande M.C., Putti C., Trizzino N., Moschese V., Consolini R., Ugazio A.G., Plebani A., PESSION, ANDREA, Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande MC., Putti C., Trizzino N., Moschese V., Consolini R., Pession A., Ugazio AG., and Plebani A.

Published
2007

46. Importanza del follow up clinico nei pazienti con ipogammaglobulinemia transitoria

Author

Moschese V., Graziani S., Chini L., Pignata C., Soresina A.R., Consolini R., Bossi G., Martino S., Trizzino A., Bertolini P., Cardinale F., Martire B., Pietogrande M.C., Rondelli R., Rossi P., Ugazio A.G., Plebani A., PESSION, ANDREA, Moschese V., Graziani S., Chini L., Pignata C., Soresina AR., Consolini R., Bossi G., Martino S., Trizzino A., Bertolini P., Cardinale F., Martire B., Pietogrande MC., Rondelli R., Pession A., Rossi P., Ugazio AG., and Plebani A.

Published
2006

47. Studio prospettico di 53 pazienti con sindrome di Wiskott Aldrich e piastrinopenia X-recessiva :risultati dell'applicazione delle raccomandazioni AIEOP per WAS/XLT

Author

Soresina A.R., Mazzolari E., Cornelli P.E., Locatelli F., Ventura A., Dufour C., Galanello R., Zanesco L., Izzi G., De Mattia D., Azzari C., Ricci A., Mazza C., Giliani S., Rondelli R., Ugazio A.G., Plebani A., Notarangelo L.D., PESSION, ANDREA, Soresina AR., Mazzolari E., Cornelli PE., Locatelli F., Ventura A., Dufour C., Galanello R., Zanesco L., Izzi G., De Mattia D., Azzari C., Ricci A., Mazza C., Giliani S., Rondelli R., Pession A., Ugazio AG., Plebani A., and Notarangelo LD.

Published
2006

48. L'ipogammaglobulinemia transitorio dell'infanzia:risultati dello studio multicentrico CSS-ID/AIEOP

Author

Moschese V., Graziani S., Chini L., Pignata C., Soresina A.R., Consolini R., Bossi G., Martino S., Trizzino A., Cardinale F., Martire B., Rondelli R., Rossi P., Ugazio A.G., Plebani A., PESSION, ANDREA, Moschese V., Graziani S., Chini L., Pignata C., Soresina AR., Consolini R., Bossi G., Martino S., Trizzino A., Cardinale F., Martire B., Rondelli R., Pession A., Rossi P., Ugazio AG., and Plebani A.

Published
2005

49. Risultati dell'applicazione delle raccomandazioni AIEOP per l'agammaglobulinemia X-recessiva

Author

Soresina A., Rondelli R., Notarangelo L.D., Duse M., Quinti I., Azzari C., pietrogrande M.C., Martino S., De Mattia D., Martire B., Rossi P., Moschese V., Cardinale F., Masi M., Pignata C., Amato G.M., Cazzola G.A., Consolini R., Nigro G., Stabile A., Locatelli F., Sciotto A., Di Nardo R., Strisciuglio P., Ambrosiani G., Marseglia G.L., Nespoli L., Felici P., Fiorini M., Ugazio A.G., Plebani A., PESSION, ANDREA, Soresina A., Rondelli R., Notarangelo LD., Duse M., Quinti I., Azzari C., pietrogrande MC., Martino S., De Mattia D., Martire B., Rossi P., Moschese V., Cardinale F., Masi M., Pignata C., Amato GM., Cazzola GA., Consolini R., Nigro G., Stabile A., Locatelli F., Sciotto A., Di Nardo R., Strisciuglio P., Ambrosiani G., Marseglia GL., Nespoli L., Felici P., Fiorini M., Pession A., Ugazio AG., and Plebani A.

Published
2005

50. CARATTERISTICHE CLINICO - IMMUNOLOGICHE DI 50 PAZIENTI CON SINDROME DI WISKOTT ALDRICH E PIASTRINOPENIA X-RECESSIVA:RISULTATI DELLE RACCOMANDAZIONI DIAGNOSTICO TERAPEUTICHE WAS-XLT AIEOP

Author

Soresina A., Mazzolari E., Cornelli P.E., Locatelli F., Ventura A., Dufour C., Galanello R., Zanesco L., Izzi G., De Mattia D., Azzari C., Ricci A., Mazza C., Giliani S., Rondelli R., plebani A., Ugazio A.G., Notarangelo L.D., PESSION, ANDREA, Soresina A., Mazzolari E., Cornelli PE., Locatelli F., Ventura A., Dufour C., Galanello R., Zanesco L., Izzi G., De Mattia D., Azzari C., Ricci A., Mazza C., Giliani S., Rondelli R., Pession A., plebani A., Ugazio AG., and Notarangelo LD.

Published
2005

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