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3. CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells

Author

Goodwin, M, Lee, E, Lakshmanan, U, Shipp, S, Froessl, L, Barzaghi, F, Passerini, L, Narula, M, Sheikali, A, Lee, CM, Bao, G, Bauer, CS, Miller, HK, Garcia-Lloret, M, Butte, MJ, Bertaina, A, Shah, A, Pavel-Dinu, M, Hendel, A, Porteus, M, Roncarolo, MG, and Bacchetta, R

Subjects
Genetics, Biotechnology, Rare Diseases, Stem Cell Research, Autoimmune Disease, Regenerative Medicine, Pediatric, Aetiology, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, 2.1 Biological and endogenous factors, Inflammatory and immune system, Good Health and Well Being, Child, Forkhead Transcription Factors, Gene Editing, Genetic Diseases, X-Linked, Humans, Mutation, Phenotype, T-Lymphocytes, Regulatory
Abstract

The prototypical genetic autoimmune disease is immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a severe pediatric disease with limited treatment options. IPEX syndrome is caused by mutations in the forkhead box protein 3 (FOXP3) gene, which plays a critical role in immune regulation. As a monogenic disease, IPEX is an ideal candidate for a therapeutic approach in which autologous hematopoietic stem and progenitor (HSPC) cells or T cells are gene edited ex vivo and reinfused. Here, we describe a CRISPR-based gene correction permitting regulated expression of FOXP3 protein. We demonstrate that gene editing preserves HSPC differentiation potential, and that edited regulatory and effector T cells maintain their in vitro phenotype and function. Additionally, we show that this strategy is suitable for IPEX patient cells with diverse mutations. These results demonstrate the feasibility of gene correction, which will be instrumental for the development of therapeutic approaches for other genetic autoimmune diseases.

Published
2020

6. Hematopoietic Stem/Progenitor Cells and Engineering: T-ALLO10 INFUSION AFTER AβDEPLETED-HSCT IN CHILDREN AND YOUNG ADULTS WITH HEMATOLOGIC MALIGNANCIES: IMPROVED IMMUNE RECONSTITUTION IN THE ABSENCE OF SEVERE GVHD

Author

Bertaina, A., primary, Bacchetta, R., additional, Shyr, D.C., additional, Saini, G., additional, Lee, J., additional, Kristovich, K., additional, Agarwal, R., additional, Klein, O., additional, Melsop, K., additional, Tate, K., additional, Barbarito, G., additional, Oppizzi, L., additional, Chen, P., additional, Cepika, A., additional, and Roncarolo, M., additional

Published
2023
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8. Gene Editing/Gene Therapies: BENCH TO BEDSIDE: ENGINEERED AUTOLOGOUS CD4LVFOXP3 TREG-LIKE CELL PRODUCT FOR PHASE 1 STUDY IN PATIENTS WITH IPEX SYNDROME

Author

Nathan, A., primary, Sato, Y., additional, Tate, K., additional, wani, P., additional, Terry, C., additional, Fazeli, F., additional, Bouge, A., additional, Goodwin, E., additional, Wright, J., additional, Bertaina, A., additional, Klein, O., additional, Agarwal, R., additional, Roncarolo, M., additional, and Bacchetta, R., additional

Published
2022
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11. Contributors

Author

Agua-Doce, A., primary, Awe, O., additional, Azevedo, R.I., additional, Bacchetta, R., additional, Bortell, R., additional, Brehm, M.A., additional, Burska, A.N., additional, Csomos, K., additional, Denny, J.C., additional, Dudley, J.T., additional, Farmer, J., additional, Getts, D.R., additional, Graca, L., additional, Greiner, D.L., additional, Harrison, S.R., additional, Hillion, S., additional, Kaplan, M.H., additional, Kidd, B.A., additional, Lacerda, J.F., additional, Lee, Y.N., additional, Miller, S.D., additional, Monteiro, M., additional, Ponchel, F., additional, Shultz, L.D., additional, Simon, Q., additional, Smarr, C.B., additional, Ueno, H., additional, Verma, M., additional, Walter, J.E., additional, Warner, J.L., additional, and Yang, Jianfei, additional

Published
2016
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20. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Author

Barzaghi, F., Hernandez, L.C.A., Neven, B., Ricci, S., Kucuk, Z.Y., Bleesing, J.J., Nademi, Z., Slatter, M.A., Ulloa, E.R., Shcherbina, A., Roppelt, A., Worth, A., Silva, J., Aiuti, A., Murguia-Favela, L., Speckmann, C., Carneiro-Sampaio, M., Fernandes, J.F., Baris, S., Ozen, A., Karakoc-Aydiner, E., Kiykim, A., Schulz, A., Steinmann, S., Notarangelo, L.D., Gambineri, E., Lionetti, P., Shearer, W.T., Forbes, L.R., Martinez, C., Moshous, D., Blanche, S., Fisher, A., Ruemmele, F.M., Tissandier, C., Ouachee-Chardin, M., Rieux-Laucat, F., Cavazzana, M., Qasim, W., Lucarelli, B., Albert, M.H., Kobayashi, I., Alonso, L., Heredia, C.D. de, Kanegane, H., Lawitschka, A., Seo, J.J., Gonzalez-Vicent, M., Diaz, M.A., Goyal, R.K., Sauer, M.G., Yesilipek, A., Kim, M., Yilmaz-Demirdag, Y., Bhatia, M., Khlevner, J., Padilla, E.J.R., Martino, S., Montin, D., Neth, O., Molinos-Quintana, A., Valverde-Fernandez, J., Broides, A., Pinsk, V., Ballauf, A., Haerynck, F., Bordon, V., Dhooge, C., Garcia-Lloret, M.L., Bredius, R.G., Kawak, K., Haddad, E., Seidel, M.G., Duckers, G., Pai, S.Y., Dvorak, C.C., Ehl, S., Locatelli, F., Goldman, F., Gennery, A.R., Cowan, M.J., Roncarolo, M.G., Bacchetta, R., PIDTC, IEWP, European Soc Blood Marrow, Barzaghi, Federica, Hernandez, Laura Cristina Amaya, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J., Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R., Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M., Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frederic, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H., Kobayashi, Ichiro, Alonso, Laura, De Heredia, Cristina Diaz, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G., Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Padilla, Erick J. Richmond, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G., Kalwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C., Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J., Roncarolo, Maria-Grazia, Bacchetta, Rosa, Amaya Hernandez, Laura Cristina, Murguia-Favela, Lui, Shearer, William Thoma, Rieux-Laucat, Frédéric, Diaz De Heredia, Cristina, Richmond Padilla, Erick J., and Kałwak, Krzysztof

Subjects
0301 basic medicine, Male, Allergy, medicine.medical_treatment, Medizin, Disease, Hematopoietic stem cell transplantation, SIROLIMUS, Regenerative Medicine, primary immune deficiency, Medicine and Health Sciences, IPEX, Immunology and Allergy, 2.1 Biological and endogenous factors, Enteropathy, Aetiology, POLYENDOCRINOPATHY, Child, Pediatric, CÉLULAS-TRONCO, immunosuppression, Hematopoietic Stem Cell Transplantation, Genetic Diseases, X-Linked, Immunosuppression, Forkhead Transcription Factors, X-LINKED SYNDROME, Allografts, Survival Rate, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Immune System Diseases, Genetic Diseases, Child, Preschool, hematopoietic stem cell transplantation, Female, hematopoietic stem, neonatal diabetes, FOXP3, Primary Immune Deficiency, Treg cells, enteropathy, genetic autoimmunity, rapamycin, Type 1, Diarrhea, Adult, medicine.medical_specialty, Adolescent, Immunology, Neonatal onset, Article, Disease-Free Survival, 03 medical and health sciences, Neonatal diabete, Clinical Research, Internal medicine, IMMUNODYSREGULATION, medicine, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Diabetes Mellitus, Genetics, Humans, REGULATORY T-CELLS, cell transplantation, Preschool, Retrospective Studies, Immunosuppression Therapy, Transplantation, IMMUNE DYSREGULATION, business.industry, MUTATIONS, Infant, Retrospective cohort study, STEM-CELL TRANSPLANTATION, IPEX syndrome, X-Linked, medicine.disease, Stem Cell Research, BONE-MARROW-TRANSPLANTATION, Treg cell, FOXP3 MUTATIONS, Diabetes Mellitus, Type 1, 030104 developmental biology, ENGRAFTMENT, Mutation, business, Follow-Up Studies
Abstract

Background Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndromeis a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen., GRAPHICAL ABSTRACT

Published
2018

22. 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

25. 401 - Hematopoietic Stem/Progenitor Cells and Engineering: T-ALLO10 INFUSION AFTER AβDEPLETED-HSCT IN CHILDREN AND YOUNG ADULTS WITH HEMATOLOGIC MALIGNANCIES: IMPROVED IMMUNE RECONSTITUTION IN THE ABSENCE OF SEVERE GVHD.

Author

Bertaina, A., Bacchetta, R., Shyr, D.C., Saini, G., Lee, J., Kristovich, K., Agarwal, R., Klein, O., Melsop, K., Tate, K., Barbarito, G., Oppizzi, L., Chen, P., Cepika, A., and Roncarolo, M.

Subjects
*YOUNG adults, *PROGENITOR cells, *HEMATOLOGIC malignancies, *ENGINEERING
Published
2023
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27. Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome

Author

Lampasona V, Passerini L, Barzaghi F, Lombardoni C, Bazzigaluppi E, Brigatti C, Bacchetta R, BOSI , EMANUELE, Lampasona, V, Passerini, L, Barzaghi, F, Lombardoni, C, Bazzigaluppi, E, Brigatti, C, Bacchetta, R, and Bosi, Emanuele

Abstract

Autoantibodies to enterocyte antigens harmonin (75 kDa USH1C protein) and villin (actin-binding 95 kDa protein) are associated with the Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. In this study we evaluated the diagnostic value of harmonin and villin autoantibodies in IPEX and IPEX-like syndromes. Harmonin and villin autoantibodies were measured by a novel Luminescent-Immuno-Precipitation-System (LIPS) quantitative assay, in patients with IPEX, IPEX-like syndrome, Primary Immunodeficiencies (PID) with enteropathy, all diagnosed by sequencing of the FOXP3 gene, and in type 1 diabetes (T1D), celiac disease and healthy blood donors as control groups. Harmonin and villin autoantibodies were detected in 12 (92%) and 6 (46%) of 13 IPEX patients, and in none of the IPEX-like, PID, T1D, celiac patients, respectively. All IPEX patients, including one case with late and atypical clinical presentation, had either harmonin and/or villin autoantibodies and tested positive for enterocyte antibodies by indirect immunofluorescence. When measured in IPEX patients in remission after immunosuppressive therapy or hematopoietic stem cell transplantation, harmonin and villin autoantibodies became undetectable or persisted at low titers in all cases but one in whom harmonin autoantibodies remained constantly high. In one patient, a peak of harmonin antibodies paralleled a relapse phase of enteropathy. Our study demonstrates that harmonin and villin autoantibodies, measured by LIPS, are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy, and are useful for screening and clinical monitoring of affected children.

Published
2013

30. Effetti di nano ZnO sull’intestino di embrioni di Xenopus laevis

Author

MANTECCA, PARIDE, MOSCHINI, ELISA, BONFANTI, PATRIZIA, COLOMBO, ANITA EMILIA, CAMATINI, MARINA CARLA, Fascio, U, Santo, N, Tremolada, P, Bacchetta, R., Mantecca, P, Moschini, E, Bonfanti, P, Colombo, A, Camatini, M, Fascio, U, Santo, N, Tremolada, P, and Bacchetta, R

Subjects
nano ZnO, Xenopus laevis, sviluppo embrionale, BIO/06 - ANATOMIA COMPARATA E CITOLOGIA
Published
2012

31. Do Surface Modifications Modulate Embryiotoxicity of nano ZnO?

Author

MOSCHINI, ELISA, COLOMBO, ANITA EMILIA, BONFANTI, PATRIZIA, CHIRICO, GIUSEPPE, CAMATINI, MARINA CARLA, MANTECCA, PARIDE, Calabri, L, Rettighieri, L, Bacchetta, R, Santo, N, Fascio, U, Moschini, E, Colombo, A, Bonfanti, P, Calabri, L, Rettighieri, L, Bacchetta, R, Santo, N, Fascio, U, Chirico, G, Camatini, M, and Mantecca, P

Subjects
nano ZnO, embryotoxicity, Xenopus laevis, BIO/06 - ANATOMIA COMPARATA E CITOLOGIA
Published
2012

33. Tossicità di nanoparticelle di Carbonio sullo sviluppo dell’anfibio Xenopus laevis

Author

Fascio, U, Santo, N, Bacchetta, R, Tremolada, P, CHIRICO, GIUSEPPE, CAMATINI, MARINA CARLA, COLOMBO, ANITA EMILIA, MOSCHINI, ELISA, MANTECCA, PARIDE, Fascio, U, Santo, N, Bacchetta, R, Tremolada, P, Chirico, G, Camatini, M, Colombo, A, Moschini, E, and Mantecca, P

Subjects
embriotossicità, nanoparticelle carbonio, Xenopus laevis, BIO/06 - ANATOMIA COMPARATA E CITOLOGIA
Published
2012

34. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome

Author

Woellner, C., Gertz, M. E., Schaffer, A. A., Lagos, M., Perro, M., Glocker, E. -O, Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitanska-Pliszka, E., Yeganch, M., Moin, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sanchez, B., Garty, B-Z, Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Batimann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarstrom, L., Davies, G. E., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Sujoy Khan, Marodi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. M., Grimbacher, B., Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., and Grimbacher, B.

Subjects
Hyper-IgE syndrome, STAT3 mutation, TH17 cell, Job syndrome, diagnostic guideline, HIES, Immunodeficiencies
Abstract

BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients. METHODS: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation. RESULTS: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3.

Published
2010

36. Intensified immunosuppression with ATG reduces graft failure without affecting immune reconstitution or infections in high-risk beta thalassaemia patients after HLA-identical sibling HSCT

Author

Biral E, Cappelli B, Zugna D, Chiesa R, Biffi A, Zito L, Fleischhauer K, Bacchetta R, Fumagalli L, Di Serio C, Roncarolo MG, Aiuti A, Marktel S., CICERI , FABIO, Biral, E, Cappelli, B, Zugna, D, Chiesa, R, Biffi, A, Zito, L, Fleischhauer, K, Bacchetta, R, Fumagalli, L, Di Serio, C, Ciceri, Fabio, Roncarolo, Mg, Aiuti, A, and Marktel, S.

Published
2010

38. Interleukin-10 Anergized Donor T Cell Infusion Improves Immune Reconstitution without Severe Graft-Versus-Host-Disease After Haploidentical Hematopoietic Stem Cell Transplantation

Author

Bacchetta R, Sartirana C, Lucarelli B, Miqueu P, Stanghellini MTL, Greco R, Velardi A, Aversa F, Martelli MF, Gregori S, Zappone E, Fleischhauer K, Bernardi M, Peccatori J, Roncarolo MG, CICERI , FABIO, Bacchetta, R, Sartirana, C, Lucarelli, B, Miqueu, P, Stanghellini, Mtl, Greco, R, Velardi, A, Aversa, F, Martelli, Mf, Gregori, S, Zappone, E, Fleischhauer, K, Bernardi, M, Peccatori, J, Ciceri, Fabio, and Roncarolo, Mg

Published
2009

39. Termporal, quantitative and functional characteristics of single-KIR positive alloreactive natural killer cell recovery account for impaired graft-versus-leukemia activity after haploidentical hematopoietic stem cell transplantation

Author

VAGO L, FORNO B, SORMANI M. P, CROCCHIOLO R, ZINO E, DI TERLIZZI S, LUPO STANGHELLINI M. T, MAZZI B, PERNA S. K, BONDANZA A, MIDDLETON D, PALINI A, BERNARDI M, BACCHETTA R, PECCATORI J, ROSSINI S, RONCAROLO M. G, BORDIGNON , CLAUDIO, BONINI C, CICERI, FABIO, AND K. FLEISCHHAUER, Vago, L, Forno, B, SORMANI M., P, Crocchiolo, R, Zino, E, DI TERLIZZI, S, LUPO STANGHELLINI M., T, Mazzi, B, PERNA S., K, Bondanza, A, Middleton, D, Palini, A, Bernardi, M, Bacchetta, R, Peccatori, J, Rossini, S, RONCAROLO M., G, Bordignon, Claudio, Bonini, C, Ciceri, Fabio, and AND K., Fleischhauer

Published
2008

40. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job’s syndrome/STAT3 deficiency

Author

Woellner C., Gertz E.m., Schaeffer A.A., Lagos M., Perro M., Pietrogrande M.C., Cossu F., Franco J.L., Matamoros N., Pietrucha B., Heropolianska Pliszka E., Yeganeh M., Espanol T., Ehl S., Gennery A.r., Abinun M., Breborowics A., Niehues T., Kilic S.S., Junker A., Turvey S., Plebani A., Sanchez B., Garty B.Z., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A., Hammarstrom L., Davies E.G., Eren E., Arkwright P.D., Moilanen J.S., Viemann D., Khan S., Marodi L., Cant A.M., Puck J.M., Holland S.M., Grimbacher B., PIGNATA, CLAUDIO, Woellner, C., Gertz, E. m., Schaeffer, A. A., Lagos, M., Perro, M., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolianska Pliszka, E., Yeganeh, M., Espanol, T., Ehl, S., Gennery, A. r., Abinun, M., Breborowics, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S., Plebani, A., Sanchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A., Hammarstrom, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Marodi, L., Cant, A. M., Puck, J. M., Holland, S. M., and Grimbacher, B.

Published
2008

46. Type 1 T regulatory cells

Author

RONCAROLO , MARIA GRAZIA, BACCHETTA R., BORDIGNON , CLAUDIO, NARULA S., LEVINGS M. K., Roncarolo, MARIA GRAZIA, Bacchetta, R., Bordignon, Claudio, Narula, S., and Levings, M. K.

Published
2001

47. La memoria immunologica

Author

Bacchetta R, Cattaneo F, BATTAGLIA, MARCO MARIA, RONCAROLO , MARIA GRAZIA, Bacchetta, R, Cattaneo, F, Battaglia, MARCO MARIA, and Roncarolo, MARIA GRAZIA

Published
2001

48. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

Author

Fernandes, Jf, Rocha, V, Labopin, M, Neven, B, Moshous, D, Gennery, Ar, Friedrich, W, Porta, F, Diaz de Heredia, C, Wall, D, Bertrand, Y, Veys, P, Slatter, M, Schulz, A, Chan, Kw, Grimley, M, Ayas, M, Gungor, T, Ebell, W, Bonfim, C, Kalwak, K, Taupin, P, Blanche, S, Gaspar, Hb, Landais, P, Fischer, A, Gluckman, E, Cavazzana Calvo, M, Eurocord, Inborn Errors Working Party of European Group for Blood, Marrow Transplantation: Ahmed, A, Auiti, A, Biffi, A, Cant, A, Fasth, A, Gennery, A, Hassan, A, Lankester, A, O'Mera, A, Plabani, A, Rovelli, A, Salmon, A, Scarselli, A, Thrasher, A, Van Royen, A, Villa, A, Wawer, A, Wahadneh, A, Worth, A, Belohradsky, B, Wolska, B, Gaspar, B, Bonfirm, C, Booth, C, Klein, C, Messina, C, Peters, C, Steward, C, Lindemans, C, Schuetz, C, de Heredia Rubio CD, Bensoussan, D, Gleadow, D, Lilic, D, Gambineri, Eleonora, Smith, E, Aerts, F, Caracseghi, F, Roberts, G, Davies, G, Al Mousa, H, Jossanc, H, Ozsahim, H, Hirsch, I, Meyts, I, Tezcan, I, Mueller, I, Andresc, I, Boelens, J, Fernandes, J, Folloni, J, Keuhl, J, Reichenbach, J, Stary, J, Wachowiak, J, Xu Bayford, J, Cunha, Jm, Ehlert, J, Rao, K, Sykora, K, Andais, L, Brown, L, Dal Cortivo, L, Griffith, L, Notarangelo, L, Abinun, M, Albert, M, Bierings, M, Bouchet, M, Cavazzana, M, Hirschfield, M, Cowan, M, Hoenig, M, Loubser, M, Roncarolo, M, Sauer, M, Schneider, M, Verstegen, M, Schroeder, M, Essink, M, Yesilipek, M, Entz Werle, N, Mahlaoui, N, Schlautmann, N, Taylor, N, Vanroyen, N, Walffraat, N, Sanal, O, Amrolia, P, Bordigoni, P, De Coppi, P, Frange, P, Orchard, P, Sedlacek, P, Shaw, P, Stephensky, P, Bacchetta, R, Bredius, R, Formankova, R, Gale, R, Seger, R, Wynn, R, Corbacioglu, S, Ehl, S, Hacein Bey, S, Hambleton, S, Mohsen, S, Mueller, S, Pai, Sy, Espanol, T, Flood, T, Guengoer, T, Bordon, V, Ormoor, V, Pashano, V, Courteille, V, Czogala, W, Qasim, W, Camci, Y, and Nademi, Z.

Subjects
Male, medicine.medical_specialty, Transplantation Conditioning, medicine.medical_treatment, Immunology, Graft vs Host Disease, Kaplan-Meier Estimate, Cord Blood Stem Cell Transplantation, Hematopoietic stem cell transplantation, Biochemistry, Gastroenterology, SCID HSCT, Internal medicine, medicine, Humans, Proportional Hazards Models, Retrospective Studies, Preparative Regimen, Severe combined immunodeficiency, business.industry, Umbilical Cord Blood Transplantation, Incidence, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Cell Biology, Hematology, medicine.disease, Surgery, Transplantation, Treatment Outcome, Child, Preschool, Histocompatibility, Cord blood, Female, Severe Combined Immunodeficiency, business
Abstract

Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are valuable treatment options. To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. Median follow-up time was 83 months and 58 months for UCBT and MMRDT, respectively. Most UCB recipients received a myeloablative conditioning regimen; most MMRDT recipients did not. UCB recipients presented a higher frequency of complete donor chimerism (P = .04) and faster total lymphocyte count recovery (P = .04) without any statistically significance with the preparative regimen they received. The MMRDT and UCBT groups did not differ in terms of T-cell engraftment, CD4+ and CD3+ cell recoveries, while Ig replacement therapy was discontinued sooner after UCBT (adjusted P = .02). There was a trend toward a greater incidence of grades II-IV acute GVHD (P = .06) and more chronic GVHD (P = .03) after UCBT. The estimated 5-year overall survival rates were 62% ± 4% after MMRDT and 57% ± 6% after UCBT. For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes.

Published
2012

49. Natural killer cell clones can efficiently process and present protein antigens

Author

Roncarolo, M. G., Bigler, M., Haanen, J. B., Yssel, H., Bacchetta, R., de Vries, J. E., Spits, H., and Other departments

Subjects
Immunology, Immunology and Allergy
Abstract

NK cell clones obtained from three different donors were tested for their ability to present soluble proteins to Ag-specific T cell clones. All NK clones were CD2+CD3-CD56+, whereas the expression of CD16 varied from clone to clone. The NK cell clones were able to process and present tetanus toxoid (TT) to TT-specific T cell clones in a class II HLA restricted manner. The capacity of NK cell clones to function as APC was also observed using the house dust mite allergen Der p I and the Der p I-derived peptide Val89-Cys117. As with EBV-transformed B cell line, NK cell clones could present the peptide 3-13 derived from the 65-kDa heat shock protein of Mycobacterium leprae, but they were unable to present the whole M. leprae Ag. Freshly isolated NK cells, IL-2-activated NK cells, and NK cell lines expanded in vitro could also process and present TT. The ability of the different NK populations to act as accessory cells correlated with their levels of class II HLA expression. These data demonstrate that NK cell clones can efficiently function as APC, however they may be restricted in the types of Ag that they can process.

Published
1991

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