517 results on '"Quinti, I"'
Search Results
2. The olfactory function in patients with common variable immunodeficiency
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Magliulo, G., Iannella, G., Ciofalo, A., Angeletti, D., Pulvirenti, F., and Quinti, I.
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- 2019
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3. POS1185 HIGH PHENOTYPIC VARIABILITY IN THREE SIBLINGS WITH ADA2 DEFICIENCY
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Sculco, E., primary, Paciaroni, K., additional, Sangiorgi, E., additional, Quinti, I., additional, and Pulvirenti, F., additional
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- 2023
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4. The response to BTN62b2 booster doses demonstrates that serum antibodies do not predict the establishment of immune B-cell memory in common variable immune deficiencies
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Piano Mortari, E., primary, Pulvirenti, F., additional, Marcellini, V., additional, Terreri, S., additional, Fernandez Salinas, A., additional, Ferrari, S., additional, Di Napoli, G., additional, Guadagnolo, D., additional, Sculco, E., additional, Albano, C., additional, Guercio, M., additional, Di Cecca, S., additional, Milito, C., additional, Garzi, G., additional, Pesce, A.M., additional, Bonanni, L., additional, Sinibaldi, M., additional, Di Cecilia, S., additional, Agrati, C., additional, Quintarelli, C., additional, Zaffina, S., additional, Locatelli, F., additional, Carsetti, R., additional, and Quinti, I., additional
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- 2022
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5. Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group
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Jolles, S., Sánchez‐Ramón, S., Quinti, I., Soler‐Palacín, P., Agostini, C., Florkin, B., Couderc, L.‐J., Brodszki, N., Jones, A., Longhurst, H., Warnatz, K., Haerynck, F., Matucci, A., and de Vries, E.
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- 2017
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6. Traitement par immunoglobuline sous cutanée facilitée chez les patients atteints de déficit immunitaire primitif et secondaire : l’étude FIGARO
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Borte, M., primary, Hanitsch, L., additional, Mahlaoui, N., additional, Fasshauer, M., additional, Huscher, D., additional, Speletas, M., additional, Dimou, M., additional, Kameniak, M., additional, Pittrow, D., additional, and Quinti, I., additional
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- 2022
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7. A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
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Clemente, N, Boggio, E, Gigliotti, C L, Orilieri, E, Cappellano, G, Toth, E, Valletti, P A, Santoro, C, Quinti, I, Pignata, C, Notarangelo, L D, Dianzani, C, Dianzani, I, Ramenghi, U, Dianzani, U, and Chiocchetti, A
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- 2015
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8. Presence of Maternal Antibodies to Human Immunodeficiency Virus 1 Envelope Glycoprotein gp120 Epitopes Correlates with the Uninfected Status of Children Born to Seropositive Mothers
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Rossi, P., Moschese, V., Broliden, P. A., Fundaro, C., Quinti, I., Plebani, A., Giaquinto, C., Tovo, P. A., Ljunggren, K., Rosen, J., Wigzell, H., Jondal, M., and Wahren, B.
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- 1989
9. The Secretion of Aspartyl Proteinase, a Virulence Enzyme, by Isolates of Candida albicans from the Oral Cavity of HIV-Infected Subjects
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De Bernardis, F., Boccanera, M., Rainaldi, L., Guerra, C. E., Quinti, I., and Cassone, A.
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- 1992
10. Quantification of IgM and IgA Anti-Pneumococcal Capsular Polysaccharides by a New ELISA Assay: a Valuable Diagnostic and Prognostic Tool for Common Variable Immunodeficiency
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Cavaliere, F. M., Milito, C., Martini, H., Schlesier, M., Dräger, R., Schütz, K., Brunetti, G., Pesce, A. M., Thon, V., Warnatz, K., and Quinti, I.
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- 2013
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11. An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene
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Sazzini, M, Zuntini, R, Farjadian, S, Quinti, I, Ricci, G, Romeo, G, Ferrari, S, Calafell, F, and Luiselli, D
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- 2009
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12. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia
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Ferrari, S, Zuntini, R, Lougaris, V, Soresina, A, S̆ourková, V, Fiorini, M, Martino, S, Rossi, P, Pietrogrande, M C, Martire, B, Spadaro, G, Cardinale, F, Cossu, F, Pierani, P, Quinti, I, Rossi, C, and Plebani, A
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- 2007
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13. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients
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Wong, G. K., Goldacker, S., Winterhalter, C., Grimbacher, B., Chapel, H., Lucas, M., Alecsandru, D., McEwen, D., Quinti, I., Martini, H., Schmidt, R. E., Ernst, D., Espanol, T., Vidaller, A., Carbone, J., Fernandez-Cruz, E., Lougaris, V., Plebani, A., Kutukculer, N., Gonzalez-Granado, L. I., Contreras, R., Kiani-Alikhan, S., Ibrahim, M. A. A., Litzman, J., Jones, A., Gaspar, H. B., Hammarstrom, L., Baumann, U., Warnatz, K., and Huissoon, A. P.
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- 2013
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14. Importance of B cell co-stimulation in CD4+ T cell differentiation: X-linked agammaglobulinaemia, a human model
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Martini, H., Enright, V., Perro, M., Workman, S., Birmelin, J., Giorda, E., Quinti, I., Lougaris, V., Baronio, M., Warnatz, K., and Grimbacher, B.
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- 2011
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15. 6th International Immunoglobulin Symposium: Poster presentations
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Fernandez-Cruz, E., Kaveri, S. V., Peter, H. H., Durandy, A., Cantoni, N., Quinti, I., Sorensen, R., Bussel, J. B., Danieli, M. G., Winkelmann, A., Bayry, J., Käsermann, F., Späth, P., Helbert, M., Salama, A., van Schaik, I. N., and Yuki, N.
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- 2009
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16. Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (Journal of Clinical Immunology, (2019), 39, 1, (45-54), 10.1007/s10875-018-0577-9)
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Schutz, K., Alecsandru, D., Grimbacher, B., Haddock, J., Bruining, A., Driessen, G., de Vries, E., van Hagen, P. M., Hartmann, I., Fraioli, F., Milito, C., Mitrevski, M., Quinti, I., Serra, G., Kelleher, P., Loebinger, M., Litzman, J., Postranecka, V., Thon, V., Babar, J., Condliffe, A. M., Exley, A., Kumararatne, D., Screaton, N., Jones, A., Bondioni, M. P., Lougaris, V., Plebani, A., Soresina, A., Sirignano, C., Spadaro, G., Galal, N., Gonzalez-Granado, L. I., Dettmer, S., Stirling, R., Chapel, H., Lucas, M., Patel, S., Farber, C. -M., Meyts, I., Banerjee, A. K., Hackett, S., Hurst, J. R., Warnatz, K., Gathmann, B., Weidemann, J., Berthold, D., and Baumann, U.
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correction - Published
- 2019
17. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes
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Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, and Yu, P
- Abstract
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.
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- 2018
18. Humoral immunity in aging
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Paganelli, R., Scala, E., Quinti, I., and Ansotegui, I. J.
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- 1994
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19. Microbial immunomodulators: mannoprotein constituents ofCandida albicans with immunomodulatory activity in lymphocyte cultures of normal, glioma-bearing and HIV-infected subjects
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Cassone, A., Quinti, I., Ausiello, C. M., Palma, C., Gomez, M. J., and Maleci, A.
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- 1991
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20. Antibacterial polysaccharide antibody deficiency after allogeneic bone marrow transplantation
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Quinti, I., Velardi, A., Le Moli, S., Guerra, E., D'Amelio, R., Mastrantonio, P., Martelli, M. F., and Aiuti, F.
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- 1990
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21. Long-term complications in primary antibody deficiencies
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Ugazio, A. G., Plebani, A., Martino, S., Pietrogrande, M. C., Quinti, I., Mattia, D. De, Rossi, P., Azzari, C., Cardinale, F., Amato, G. M., and Pession, A.
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- 2002
22. Health-Related Quality of Life in Common Variable Immunodeficiency Italian Patients Switched to Remote Assistance During the COVID-19 Pandemic
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Pulvirenti, F., Cinetto F, ., Milito, C., (shared second authorship), Bonanni, L., Pesce, A. M., Leodori, G., Garzi, G., Miglionico, M., Tabolli, S., and Quinti, I.
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Male ,GHQ-12, 12-item General Health Questionnaire ,Health-related quality of life ,Anxiety ,Infusions, Subcutaneous ,medicine.disease_cause ,COVID-19 epidemic ,0302 clinical medicine ,Quality of life ,Surveys and Questionnaires ,Pandemic ,Immunology and Allergy ,Medicine ,Viral ,030212 general & internal medicine ,Young adult ,Home Infusion Therapy ,Depression (differential diagnoses) ,Coronavirus ,COVID-19, Coronavirus disease 2019 ,Depression ,Subcutaneous ,Common variable immunodeficiencies ,Middle Aged ,PAD, Primary antibody deficiency ,Telemedicine ,Italy ,Female ,General Health Questionnaire ,medicine.symptom ,Coronavirus Infections ,Adult ,Infusions ,medicine.medical_specialty ,Adolescent ,Pneumonia, Viral ,Immunoglobulins ,Article ,Young Adult ,03 medical and health sciences ,CVID, Common variable immunodeficiency ,SCIG, Subcutaneous immunoglobulin ,Humans ,CVID_QoL, Common Variable Immune Deficiency Quality of Life ,Pandemics ,Aged ,SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 ,business.industry ,QOL, Quality of life ,COVID-19 ,Remote assistance ,Common Variable Immunodeficiency ,Quality of Life ,Pneumonia ,HRQOL, Health-related quality of life ,030228 respiratory system ,Emergency medicine ,business ,IVIG, Intravenous immunoglobulin ,anxiety ,common variable immunodeficiencies ,coronavirus ,depression ,general health questionnaire ,health-related quality of life ,remote assistance - Abstract
Background A rapidly expanding pandemic of the new coronavirus has become the focus of global scientific attention. Data are lacking on the impact of the pandemic caused by the severe acute respiratory syndrome coronavirus 2 on health-related quality of life among patients affected by primary antibody deficiencies (PADs). Objective To identify factors impacting the health-related-quality of life (HRQOL) among Italian patients affected by PADs switched to remote assistance at the time of the coronavirus disease 2019 pandemic. Methods The quality of life was surveyed in 158 patients with PADs by the Common Variable Immune Deficiency Quality of Life questionnaire, a disease-specific tool, and by the 12-item General Health Questionnaire, a generic tool to assess the risk of anxiety/depression. Since the beginning of the coronavirus disease 2019 epidemic, we shifted all patients with PADs to home therapy, and activated remote visits. Questionnaires were sent by email 4 weeks later. Common Variable Immune Deficiency Quality of Life questionnaire and 12-item General Health Questionnaire data scores were compared with the same set of data from a survey done in 2017. Results Of 210 patients, 158 (75%) agreed to participate. The quality of life was worse in the group of patients who were at risk of anxiety/depression at the study time. HRQOL was similar in patients forced to shift from hospital-based to home-based immunoglobulin treatment and in patients who continued their usual home-based replacement. The risk of anxiety/depression is associated with pandemia caused by the severe acute respiratory syndrome coronavirus 2 and with patients' fragility, and not with related clinical conditions associated with common variable immune deficiencies. Anxiety about running out of medications is a major new issue. Conclusions The coronavirus disease 2019 epidemic impacted HRQOL and the risk of anxiety/depression of patients with PADs. The remote assistance program was a useful possibility to limit personal contacts without influencing the HRQOL.
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- 2020
23. Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
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Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, In't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y, Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository, Medical Research Council (MRC), and British Heart Foundation
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Whole genome sequencing ,0303 health sciences ,Multidisciplinary ,Science & Technology ,lcsh:R ,lcsh:Medicine ,Computational biology ,Biology ,Telomere ,Multidisciplinary Sciences ,03 medical and health sciences ,0302 clinical medicine ,NIHR BioResource - Rare Diseases ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Science & Technology - Other Topics ,lcsh:Q ,Ploidy ,lcsh:Science ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
Correction to: Scientific Reports https://doi.org/10.1038/s41598-017-14403-y, published online 22 January 2018 The original version of this Article contained a typographical error in the spelling of the consortium member Patrick Yu-Wai-Man which was incorrectly given as Patrick Yu Wai Man. In addition, a supplementary file containing additional algorithms and analysis was omitted from the original version of this Article. These errors have now been corrected in the HTML and PDF versions of the Article.
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- 2018
24. The burden of common variable immunodeficiency disorders: A retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
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Odnoletkova, I, Kindle, G, Quinti, I, Grimbacher, B, Knerr, V, Gathmann, B, Ehl, S, Mahlaoui, N, Van Wilder, P, Bogaerts, K, de Vries, E, Farrugia, A, Krishnarajah, S, Mendivil, J, Prior, M, Rübesam, T, Runken, M, in collaboration with the Plasma Protein Therapeutics Association (PPTA) Taskforce, Tranzo, Scientific center for care and wellbeing, and Huisarts & Ziekenhuis
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0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Génétique clinique ,Primary immunodeficiency ,Primary antibody deficiency ,Common variable immunodeficiency ,Burden of disease DALY ,Health economics ,Diagnostic delay ,Population ,lcsh:Medicine ,Pharmacologie ,03 medical and health sciences ,Life Expectancy ,Cost of Illness ,medicine ,Burden of disease ,common variable immunodeficiency ,DALY ,diagnostic delay ,health economics ,primary antibody deficiency ,primary immunodeficiency ,genetics (clinical) ,pharmacology (medical) ,Humans ,Pharmacology (medical) ,Registries ,Risk factor ,education ,Genetics (clinical) ,Disease burden ,Retrospective Studies ,education.field_of_study ,business.industry ,Research ,lcsh:R ,General Medicine ,Sciences bio-médicales et agricoles ,medicine.disease ,Comorbidity ,Europe ,030104 developmental biology ,Years of potential life lost ,Cohort ,business - Abstract
BACKGROUND: Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden of CVID in Europe has not been previously estimated. We performed a retrospective analysis of the European Society for Immunodeficiencies (ESID) registry data on the subset of patients classified by their immunologist as CVID and treated between 2004 and 2014. The registered deaths and comorbidities were used to calculate the annual average age-standardized rates of Years of Life Lost to premature death (YLL), Years Lost to Disability (YLD) and Disability Adjusted Life Years (DALY=YLL + YLD). These outcomes were expressed as a rate per 105 of the CVID cohort (the individual disease burden), and of the general population (the societal disease burden). RESULTS: Data of 2700 patients from 23 countries were analysed. Annual comorbidity rates: bronchiectasis, 21.9%; autoimmunity, 23.2%; digestive disorders, 15.6%; solid cancers, 5.5%; lymphoma, 3.8%, exceeded the prevalence in the general population by a factor of 34.0, 7.6, 8.1, 2.4 and 32.6, respectively. The comorbidities of CVID caused 8722 (6069; 12,363) YLD/105 in this cohort, whereas 44% of disability burden was attributable to infections and bronchiectasis. The total individual burden of CVID was 36,785 (33,078, 41,380) DALY/105. With estimated CVID prevalence of ~ 1/ 25,000, the societal burden of CVID ensued 1.5 (1.3, 1.7) DALY/105 of the general population. In exploratory analysis, increased mortality was associated with solid tumor, HR (95% CI): 2.69 (1.10; 6.57) p = 0.030, lymphoma: 5.48 (2.36; 12.71) p, SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2018
25. IL-10 Production and CD40L Expression in Patients with Common Variable Immunodeficiency
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OLIVA, A., SCALA, E., QUINTI, I., PAGANELLI, R., ANSOTEGUI, I. J., GIOVANNETTI, A., PIERDOMINICI, M., AIUTI, F., and PANDOLFI, F.
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- 1997
26. Responsiveness of human polymorphonuclear cells (PMNL) to stimulation by a mannoprotein fraction (MP-F2) of Candida albicans; enhanced production of IL-6 and tumour necrosis factor-alpha (TNF-α) by MP-F2-stimulated PMNL from HIV-infected subjects
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Torosantucci, A., Chiani, P., Quinti, I., Ausiello, C. M., Mezzaroma, I., and Cassone, A.
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- 1997
27. Apoptosis-related mortality in vitro of mononuclear cells from patients with HIV infection correlates with disease severity and progression
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Pandolfi, F., Pierdominici, M., Oliva, A., D'Offizi, G., Mezzaroma, I., Mollicone, B., Giovannetti, A., Rainaldi, L., Quinti, I., and Aiuti, F.
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HIV infection -- Physiological aspects ,Cell death -- Physiological aspects ,Health - Abstract
High mortality rates (MR) of cultured mononuclear blood cells are associated with severe and rapidly developing cases of HIV infection. Researchers isolated peripheral blood mononuclear cells from 103 HIV-1 infected patients and 30 control subjects, and grew the cells in culture for 3 days. According to a flow cytometry test, programmed cell death, known as apoptosis, occurred in cells from all HIV patients. The MR of cells was higher in HIV patients than in control subjects. In addition, the MR was lower in patients in earlier stages of HIV infection than those in later stages of infection. A higher MR corresponded with a lower absolute number and lower percentage of CD4 cells. Adding interleukin-2 or fibroblast-conditioned medium to the cells decreased their MR, especially among cells that did not produce the HIV antigen p24. Among 60 patients who were followed for an average of approximately 2 years, progression of HIV infection was associated with greater MR at the beginning of follow-up.
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- 1995
28. Serum free light chains as a possible diagnostic tool in primary hypogammaglobulinemia: a multicentric study on 344 CVID patients
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Rizzo, F., Cinetto, F., Compagno, N., Marasco, C., Marconato, Maddalena, Milito, C., Pecoraro, Alessandro, Pulvirenti, F., Altinier, S., De Carli, M., Matucci, A., Plebani, M., Spadaro, G., Vacca, A., Vultaggio, A., Quinti, I., and Agostini, C.
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- 2017
29. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study
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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.
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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.
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- 2011
30. Infection With Hepatitis C Virus
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Hallam, Nicholas, Kurtz, John, Dike, Angela, Parker, David, Quinti, I., Sacco, G., Salman, D. El, Paganelli, R., Fiorilli, M., Aiuti, F., and Pandolfi, F.
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- 1994
31. Characterization of Human Mononuclear Cells by Monoclonal Antibodies in Patients with Primary Immunodeficiencies: Correlation with Functional Studies
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Seminara, R., Sirianni, M. C., Quinti, I., Businco, L., Russo, G., Aiuti, F., Fudenberg, H. Hugh, editor, Whitten, H. D., editor, and Ambrogi, Fabio, editor
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- 1984
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32. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients (vol 172, pg 63, 2013)
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Wong, G, Goldacker, S, Winterhalter, C, Grimbacher, B, Chapel, H, Lucas, M, Alecsandru, D, McEwen, D, Quinti, I, Martini, H, Milito, C, Schmidt, R, Ernst, D, Espanol, T, Vidaller, A, Carbone, J, Fernandez-Cruz, E, Lougaris, V, Plebani, A, Kutukculer, N, Gonzalez-Granado, L, Contreras, R, Kiani-Alikhan, S, Ibrahim, M, and Litzman, J
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- 2016
33. TLR9 signaling in patients with ectodermal dysplasia and immunodeficiency associated with Nuclear Factor Essential Modulator (NEMO) mutations
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GIARDINO, GIULIANA, NADDEI, ROBERTA, CIRILLO, EMILIA, GALLO, VERA, PIGNATA, CLAUDIO, Esposito T., Fusco F., Quinti I., Ursini M. V., Carsetti R., Giardino, Giuliana, Naddei, Roberta, Cirillo, Emilia, Gallo, Vera, Esposito, T., Fusco, F., Quinti, I., Ursini, M. V., Carsetti, R., and Pignata, Claudio
- Abstract
Background: Hypohidrotic ectodermal dysplasia (HED) is a group of disorders of ectodermal tissues, resulting from mutations in the ectodysplasin-A (EDA) pathway. Hypomorphic mutations in the NF-?B essential modulator (NEMO) result in HED with immunodeficiency (HED-ID, OMIM 300291), characterized by susceptibility to encapsulated bacteria, mycobacteria, and herpes virus infections. Objective: To analyze B-cell compartment and TLR9 signaling in HED-ID patients. Methods: Two HED-ID patients and a patient with HED caused by EDA gene mutation (XLHED) to confirm the implication of NFkB in this pathway were studied. Results: In HED-ID, differently from XLHED, only few B cells acquired the phenotype of IgM memory and differentiated into plasma cells upon TLR9 stimulation. Memory B cells did not produce IgG and IgA, and only small amounts of IgM in vitro. Conclusion: In HED-ID patients, TLR9 signaling is abnormal, in keeping with the lack of IgM memory B cells and natural antibodies. In individuals at a high risk of developing pneumococcal diseases, increased susceptibility to Streptococcus pneumonia infections and poor response to polysaccharide antigens have been associated with the lack of IgM memory B cells, required for the T-independent response toward encapsulated bacteria, whose differentiation from transitional B cells is under TLR9 control. This finding helps explain the susceptibility to infections by encapsulated bacteria.
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- 2014
34. Clinical features and follow-up in patients with 22q11.2 deletion syndrome
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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
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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.
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- 2014
35. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
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Elkaim, E, Neven, B, Bruneau, J, Mitsui-Sekinaka, K, Stanislas, A, Heurtier, L, Lucas, CL, Matthews, H, Deau, MC, Sharapova, S, Curtis, J, Reichenbach, J, Glastre, C, Parry, DA, Arumugakani, G, McDermott, E, Kilic, SS, Yamashita, M, Moshous, D, Lamrini, H, Otremba, B, Gennery, A, Coulter, T, Quinti, I, Stephan, JL, Lougaris, V, Brodszki, N, Barlogis, V, Asano, T, Galicier, L, Boutboul, D, Nonoyama, S, Cant, A, Imai, K, Picard, C, Nejentsev, S, Molina, TJ, Lenardo, M, Savic, S, Cavazzana, M, Fischer, A, Durandy, A, and Kracker, S
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Adult ,Male ,Adolescent ,Genotype ,p110δ ,Class I Phosphatidylinositol 3-Kinases ,activated phosphoinositide 3-kinase δ syndrome ,Biopsy ,Immunology ,CD8-Positive T-Lymphocytes ,primary immunodeficiency, APDS2, combined immune deficiency ,Cohort Studies ,Young Adult ,Gene Frequency ,T-Lymphocyte Subsets ,lymphadenopathy ,P110δ-activating mutations causing senescent T cells ,Immunology and Allergy ,Humans ,hyper-IgM ,Child ,Alleles ,and immunodeficiency ,Primary immunodeficiency ,phosphoinositide 3-kinase ,Immunologic Deficiency Syndromes ,p85α ,adenopathy ,Middle Aged ,antibody deficiency ,Phenotype ,Activated phosphoinositide 3-kinase δ syndrome ,Adenopathy ,And immunodeficiency ,Antibody deficiency ,Hyper-IgM ,Immunodeficiency ,Lymphadenopathy ,P110δ ,P85α ,Phosphoinositide 3-kinase ,Child, Preschool ,Mutation ,p110δ-activating mutations causing senescent T cells ,Female ,RNA Splice Sites ,immunodeficiency - Abstract
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]–R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85α, p55α, and p50α) of class IA phosphoinositide 3-kinases. Objectives We sought to review the clinical, immunologic, and histopathologic phenotypes of APDS2 in a genetically defined international patient cohort. Methods The medical and biological records of 36 patients with genetically diagnosed APDS2 were collected and reviewed. Results Mutations within splice acceptor and donor sites of exon 11 of the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract infections (100%), pneumonitis (71%), and chronic lymphoproliferation (89%, including adenopathy [75%], splenomegaly [43%], and upper respiratory tract lymphoid hyperplasia [48%]) were the most common features. Growth retardation was frequently noticed (45%). Other complications were mild neurodevelopmental delay (31%); malignant diseases (28%), most of them being B-cell lymphomas; autoimmunity (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell lymphopenia (88%) associated with an increased frequency of transitional B cells (93%), and decreased numbers of naive CD4 and naive CD8 cells but increased numbers of CD8 effector/memory T cells were predominant immunologic features. The majority of patients (89%) received immunoglobulin replacement; 3 patients were treated with rituximab, and 6 were treated with rapamycin initiated after diagnosis of APDS2. Five patients died from APDS2-related complications. Conclusion APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase δ inhibitors are possible treatment options.
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- 2015
36. Absence of HIV-1 and HIV-2 infection in different populations from Alexandria, Egypt
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Renganathan, E., Quinti, I., Ghazzawi, E. El, Kader, O., El Sherbini, I., Gamil, F., and Rocchi, G.
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- 1995
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37. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia
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Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.
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Male ,Pediatrics ,medicine.medical_specialty ,x-linked agammaglobulinemia ,Activities of daily living ,Adolescent ,X-linked agammaglobulinemia ,Health Status ,Immunology ,pedsql 4.0 generic core scale ,Quality of life ,children ,Agammaglobulinemia ,Surveys and Questionnaires ,Activities of Daily Living ,health-related quality of life ,parents ,medicine ,Humans ,Immunology and Allergy ,PedsQL 4.0 Generic Core Scale ,Child ,Settore MED/38 - Pediatria Generale e Specialistica ,Health related quality of life ,quality of live ,business.industry ,Immunoglobulins, Intravenous ,Genetic Diseases, X-Linked ,medicine.disease ,Socioeconomic Factors ,Child, Preschool ,Mutation ,Quality of Life ,Female ,X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale ,business - Abstract
Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.
- Published
- 2009
38. Is dosing of therapeutic immunoglobulins optimal? A review of a 3-decade long debate in Europe
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Kerr, J. M., Quinti, I., Chapel, Helen, Spaeth, P., Sewell, A. C., Salama, A., van Schaik, I. N., Kuipers, T. W., Peter, H-H., Amsterdam institute for Infection and Immunity, Amsterdam Neuroscience, 05 Neurology and psychiatry, Neurology, and Paediatric Infectious Diseases / Rheumatology / Immunology
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- 2014
39. Intravenus immunoglobulin therapy: a prospective multicentric study monitoring adverse reactions
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Soresina A, Rondelli R, Quinti I, Agostini C, Martino S, Pietrogrande MC, Putti C, Arico M, Moschese V, Consolini R, Plebani A, Pession A, Ugazio A., SPADARO, GIUSEPPE, Soresina, A, Rondelli, R, Quinti, I, Agostini, C, Spadaro, Giuseppe, Martino, S, Pietrogrande, Mc, Putti, C, Arico, M, Moschese, V, Consolini, R, Plebani, A, Pession, A, and Ugazio, A.
- Published
- 2008
40. Risultati definitivi dello studio prospettico multicentrico di sorveglianza degli effetti collaterali nell'utilizzo delle immunoglobuline per via endovenosa
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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
41. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency
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Quinti, I, Soresina, A, Spadaro, G, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, Pesce, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, De Mattia, D, Martire, B, Cossu, F, Schirillo, G, Castagnola, E, Pietrogrande, M, Delle Piane, R, Putti, C, Trizzino, A, Amato, G, Bertolini, P, Zecca, M, Consolini, R, Moschese, V, Rossi, P, Cancrini, C, Cazzola, G, Quinti, I, Soresina, A, Spadaro, Giuseppe, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, MARIA PESCE, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, ITALIAN PRIMARY IMMUNODEFICIENCY, Network, SORESINA A., SPADARO G, Pignata, Claudio, and Plebani, A.
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,clinical features ,Time Factors ,Adolescent ,common variable immunodeficiency ,Immunology ,Immunoglobulins ,intravenous immunoglobulins ,chronic lung disease ,Autoimmune Diseases ,Cohort Studies ,Age Distribution ,Neoplasms ,medicine ,Immunology and Allergy ,Humans ,pneumonia ,Sinusitis ,Prospective cohort study ,Child ,Preschool ,mortality ,Aged ,Settore MED/38 - Pediatria Generale e Specialistica ,Respiratory tract infections ,business.industry ,Common variable immunodeficiency ,Chronic sinusitis ,Middle Aged ,medicine.disease ,Surgery ,Survival Rate ,Pneumonia ,Treatment Outcome ,Child, Preschool ,Common Variable Immunodeficiency ,Female ,Follow-Up Studies ,Immunotherapy ,Cohort ,business ,Cohort study - Abstract
Common Variable Immunodeficiency belongs to the group of rare diseases encompassing antibody deficiency syndromes of highly variable clinical presentation and outcome. The multicenter prospective study on a cohort of 224 patients with Common Variable Immunodeficiency provides an updated view of the spectrum of illnesses which occurred at the clinical onset and over a long period of follow-up (mean time: 11 years) and information on the effects of long-term immunoglobulin treatment. The mean age at the time of diagnosis was 26.6 years. Seventy-five patients were younger than 14 years of age. The mean age at the onset of symptoms was 16.9 years. This implicates with a mean diagnostic delay of 8.9 years. Respiratory tract infections were the most prominent clinical problem observed at diagnosis and during the follow-up. Intravenous immunoglobulin administration induced a significant reduction in the incidence of acute infections, mainly acute pneumonia and acute otitis. However, a progressive increase in the prevalence of patients with chronic diseases, mainly sinusitis and lung disease, was observed in all age groups, including the pediatric population. The morbidity of Common Variable Immunodeficiency due to all associated clinical conditions increased over time despite an adequate replacement with intravenous immunoglobulins. Our data stressed the need to develop international guidelines for the prevention and therapy of chronic lung disease, chronic sinusitis, chronic diarrhoea, and chronic granulomatosis in patients with humoral immunodeficiencies.
- Published
- 2007
42. The management of HCV infected pregnant women and their children European paediatric HCV network
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Pembrey, Lucy, Newell, Marie Louise, Tovo, Pier Angelo, Amoroso, A., Bevilaqua, E., Asensi Botet, F., Pereda, A., Balossini, V., Bona, G., Zaffaroni, M., Bandelloni, A., Coscia, A., Fabris, C., Aime, S., Belloni, C., Bossi, G., Salati, B., Boucher, C., Buffolano, W., Butler, K., Roura, L. Cabero, Sanges, J. M. Bertran, Cigna, P., Ciria, L. M., Ginard, C. Servera, Teruel, G. Claret, Fortuny, C., Coll, O., Corrias, A., Ledda, R., Floris, S., De Maria, A., Echeverria, J., Cilla, G., LANARI, MARCELLO, Tridapalli, E., Venturi, V., Fischler, B., Bohlin, A. B., Lindgren, S., Lindh, G., Giacomet, V., Merlo, M., Figini, C., Erba, P., Viganò, A., Hannam, S., Mieli Vergani, G., Hatzakis, A., Inchley, C., Fjaerli, H. O., Maccabruni, A., Marcellini, M., Sartorelli, M. R., Fontelos, P. Martin, Mazza, A., Mok, J. Y. Q., Mûr, A., Viñolas, M., Paternoster, D. M., Grella, P., Polywka, S., Quinti, I., Casadei, A. M., Rojahn, A., Berg, A., Rosso, R., Ferrando, S., Bassetti, D., Contreras, J. Ruiz, Manzanares, A., Extremera, A. Ruiz, Salvini, F., Zuccotti, G. V., Schmitz, T., Grosch Wörner, I., Sperling, C. Feiterna, Piening, T., Vegnente, A., Iorio, R., Versace, A., Lazier, L., Palomba, E., Gabiano, C., Balbo, L., Zanetti, A., Tanzi, E., FALDELLA, GIACOMO, Pembrey, L., Newell, M. L., Tovo, P. A., Amoroso, A., Bevilacqua, E., Asensi Botet, F., Pereda, A., Balossini, V., Bona, G., Zaffaroni, M., Bandelloni, A., Coscia, A., Fabris, C., Iorio, Raffaele, Vegnente, Angela, Pembrey, Lucy, Newell, Marie-Louise, Tovo, Pier-Angelo, Bevilaqua, E., Asensi-Botet, F., Aime, S., Belloni, C., Bossi, G., Salati, B., Boucher, C., Buffolano, W., Butler, K., Roura, L. Cabero, Sanges, J.M. Bertran, Cigna, P., Ciria, L.M., Ginard, C. Servera, Teruel, G. Claret, Fortuny, C., Coll, O., Corrias, A., Ledda, R., Floris, S., De Maria, A., Echeverria, J., Cilla, G., Faldella, Giacomo, Lanari, M., Tridapalli, E., Venturi, V., Fischler, B., Bohlin, A.-B., Lindgren, S., Lindh, G., Giacomet, V., Merlo, M., Figini, C., Erba, P., Viganò, A., Hannam, S., Mieli-Vergani, G., Hatzakis, A., Inchley, C., Fjaerli, H.O., Maccabruni, A., Marcellini, M., Sartorelli, M.R., Fontelos, P. Martin, Mazza, A., Mok, J.Y.Q., Mûr, A., Viñolas, M., Paternoster, D.M., Grella, P., Polywka, S., Quinti, I., Casadei, A.M., Rojahn, A., Berg, A., Rosso, R., Ferrando, S., Bassetti, D., Contreras, J. Ruiz, Manzanares, A., Extremera, A. Ruiz, Salvini, F., Zuccotti, G.V., Schmitz, T., Grosch-Wörner, I., Sperling, C. Feiterna, Piening, T., Vegnente, A., Iorio, R., Versace, A., Lazier, L., Palomba, E., Gabiano, C., Balbo, L., Zanetti, A., and Tanzi, E.
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Pediatrics ,medicine.medical_specialty ,Psychological intervention ,Breastfeeding ,Pregnancy ,Prenatal Diagnosis ,Diagnosis ,medicine ,Humans ,Prospective Studies ,Pregnancy Complications, Infectious ,Prospective cohort study ,Hepatitis C ,Clinical management ,Mother-to-child transmission ,Paediatric ,Follow-up ,Hepatology ,business.industry ,Transmission (medicine) ,Gastroenterology ,Infant, Newborn ,virus diseases ,Evidence-based medicine ,medicine.disease ,digestive system diseases ,Infectious Disease Transmission, Vertical ,Europe ,Immunology ,Female ,Viral disease ,business ,Diagnosi - Abstract
Background/Aims: As evidence accumulates relating to mother-to-child (vertical) transmission of hepatitis C virus (HCV), it is timely to draw up guidelines for the clinical management of HCV infected pregnant women and their children. Methods: A review of evidence from the European Paediatric HCV Network (EPHN) prospective study of HCV infected women and their children and other published studies. Meeting of EPHN clinical experts to reach a consensus on recommendations for management. Each recommendation was graded according to the level of evidence. Results/conclusions: Although several risk factors for mother-to-child transmission have been identified, none are modifiable and there are currently no interventions available to prevent vertical transmission of HCV. Data on timing of loss of maternal antibodies and reliability of diagnostic tests inform the optimum follow-up schedule for confirmation or exclusion of infection in children born to HCV infected women. Based on the current evidence, routine antenatal screening for HCV should not be introduced and neither elective caesarean section nor avoidance of breastfeeding should be recommended to HCV infected women to prevent mother-to-child transmission of HCV. HCV/HIV co-infected women should follow existing HIV guidelines. © 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
- Published
- 2005
43. Risultati dell'applicazione delle raccomandazioni AIEOP per l'agammaglobulinemia X-recessiva
- Author
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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
44. L'immunodeficienza comune variabile
- Author
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Quinti I., Rondelli R., Ugazio A., PESSION, ANDREA, Quinti I., Rondelli R., Pession A., and Ugazio A.
- Published
- 2005
45. Thymopeníin treatment of selective IgA deficiency
- Author
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Fiorilli, M., Quinti, I., Russi, G., Seminara, R., Ensoli, B., and Aiuti, F.
- Published
- 1985
- Full Text
- View/download PDF
46. Selective defect of a T helper subpopulation in severe combined immunodeficiency
- Author
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Businco, Luisa, Pandolfi, F., Rossi, P., Del Principe, D., Fiorilli, M., Quinti, I., and Aiuti, F.
- Published
- 1981
- Full Text
- View/download PDF
47. Binding of sheep erythrocytes in chronic lymphocytic leukemias of B-cell origin
- Author
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Semenzato, G., Pizzolo, G., Gerosa, F., Pandolfi, F., Pezzutto, A., Andrighetto, G. C., Quinti, I., Agostini, C., Foa, R., and Tridente, G.
- Published
- 1982
- Full Text
- View/download PDF
48. COMMON VARIABLE IMMUNODEFICIENCY - NEW INSIGHT INTO THE PATHOGENESIS AND THE QUEST FOR A WORKABLE CLASSIFICATION
- Author
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Pandolfi F, Milito C, Conti V, Danilo Pagliari, Frosali S, Cianci R, and Quinti I
- Subjects
B-Lymphocytes ,Common Variable Immunodeficiency ,Humans ,primary immunodeficiencies (pid) ,common variable immunodeficiency (cvid) ,prognosis ,memory b-cells - Abstract
In this editorial we argue that more and more complex classifications for patients with common variable immunodeficiency (CVID) fail to identify those patients at high risk of developing infections. We propose that the minimal requirement to identify such patients is the absolute numbers of total and memory B cells and the IgM response to immunization with polysaccharides. If these data should be confirmed, they will provide the basis for a good classification of a heterogeneous group of patients. This simple, workable classification may result in a clinically useful identification of patients prone to more aggressive infections.
- Published
- 2013
49. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study
- Author
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Plebani, A, Soresina, A, Rondelli, R, Amato, Gm, Azzari, C, Cardinale, F, Cazzola, G, Consolini, R, De Mattia, D, Dell'Erba, G, Duse, M, Fiorini, M, Martino, Silvana, Martire, B, Masi, M, Monafo, V, Moschese, V, Notarangelo, Ld, Orlandi, P, Panei, P, Pession, A, Pietrogrande, Mc, Pignata, C, Quinti, I, Ragno, V, Rossi, P, Sciotto, A, Stabile, A, Italian Pediatric Group for XLA AIEOP, Plebani, A., Soresina, A., Rondelli, R., Amato, G. M., Azzari, C., Cardinale, F., Cazzola, G., Consolini, R., DE MATTIA, D., Dell'Erba, G., Duse, M., Fiorini, M., Martino, S., Martire, B., Masi, M., Monafo, V., Moschese, V., Notarangelo, L. D., Orlandi, P., Panei, P., Pession, A., Pietrogrande, M. C., Pignata, Claudio, Quinti, I., Ragno, V., Rossi, P., Sciotto, A., and Stabile, A.
- Subjects
Lung Diseases ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Genetic Linkage ,Agammaglobulinemia ,Humans ,Infant, Newborn ,Protein-Tyrosine Kinases ,Child ,Child, Preschool ,X Chromosome ,Immunoglobulins, Intravenous ,Cohort Studies ,Chronic Disease ,Follow-Up Studies ,Adolescent ,Mutation ,clinical features ,X-linked agammaglobulinemia ,Immunology ,Immunoglobulins ,infections ,intravenous immunoglobulin ,BTK mutation ,Sepsis ,Immunopathology ,Epidemiology ,medicine ,Agammaglobulinaemia Tyrosine Kinase ,Immunology and Allergy ,Preschool ,Settore MED/38 - Pediatria Generale e Specialistica ,BTK mutations ,business.industry ,Chronic sinusitis ,Meningoencephalitis ,Infant ,medicine.disease ,Newborn ,agammaglobulinemia ,business ,Intravenous ,Meningitis ,Cohort study - Abstract
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG.
- Published
- 2002
50. HIGH PHENOTYPIC VARIABILITY IN THREE SIBLINGS WITH ADA2 DEFICIENCY.
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Sculco, E., Paciaroni, K., Sangiorgi, E., Quinti, I., and Pulvirenti, F.
- Published
- 2023
- Full Text
- View/download PDF
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