20052019

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2019

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M. & 30 others, Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Rosti, V., Bracaglia, C., Palma, P., Finocchi, A., Locatelli, F., Cancrini, C., Aiuti, A., De Benedetti, F. & Tartaglia, M., Dec 2 2019, In : Journal of Experimental Medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M. & 30 others, Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Rosti, V., Bracaglia, C., Palma, P., Finocchi, A., Locatelli, F., Cancrini, C., Aiuti, A., De Benedetti, F. & Tartaglia, M., Dec 2 2019, In : The Journal of experimental medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

Open Access

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C. & 20 others, Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, F., Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C. & Di Matteo, G., 2019, In : Frontiers in Immunology. 10, p. 1184

Research output: Contribution to journalArticle

Open Access
Open Access

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C. & 20 others, Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, F., Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C. & Di Matteo, G., 2019, In : Frontiers in Immunology. 10, p. 316

Research output: Contribution to journalArticle

2018

Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent

Chiriaco, M., Casciano, F., Di Matteo, G., Gentner, B., Claps, A., Di Cesare, S., Cotugno, N., D'Argenio, P., Rossi, P., Aiuti, A. & Finocchi, A., Aug 2018, In : Clinical Immunology. 193, p. 52-59 8 p.

Research output: Contribution to journalArticle

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

Cifaldi, C., Serafinelli, J., Petricone, D., Brigida, I., Di Cesare, S., Di Matteo, G., Chiriaco, M., De Vito, R., Palumbo, G., Rossi, P., Palma, P., Cancrini, C., Aiuti, A. & Finocchi, A., Jul 23 2018, In : Journal of Pediatric Hematology/Oncology. 4 p.

Research output: Contribution to journalArticle

2017

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection

Brigida, I., Chiriaco, M., Di Cesare, S., Cittaro, D., Di Matteo, G., Giannelli, S., Lazarevic, D., Zoccolillo, M., Stupka, E., Jenkner, A., Francalanci, P., Livadiotti, S., Morawski, A., Ravell, J., Lenardo, M., Cancrini, C., Aiuti, A. & Finocchi, A., 2017, In : Journal of Clinical Immunology. 37, 1, p. 32-35 4 p.

Research output: Contribution to journalArticle

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction

Maccari, ME., Scarselli, A., Di Cesare, S., Floris, M., Angius, A., Deodati, A., Chiriaco, M., Cambiaso, P., Corrente, S., Colafati, GS., Utz, PJ., Angelini, F., Fierabracci, A., Aiuti, A., Carsetti, R., Rosenberg, JM., Cappa, M., Rossi, P., Bacchetta, R. & Cancrini, C., 2017, In : Clinical Immunology. 183, 5, p. 273-277 5 p.

Research output: Contribution to journalArticle

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Chiriaco, M., Brigida, I., Ariganello, P., Di Cesare, S., Di Matteo, G., Taus, F., Cittaro, D., Lazarevic, D., Scarselli, A., Santilli, V., Attardi, E., Stupka, E., Giannelli, S., Fraziano, M., Finocchi, A., Rossi, P., Aiuti, A., Palma, P. & Cancrini, C., May 1 2017, In : Clinical Immunology. 178, p. 20-28 9 p.

Research output: Contribution to journalArticle

2016

Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects

Chiriaco, M., Salfa, I., Di Matteo, G., Rossi, P. & Finocchi, A., 2016, (Accepted/In press) In : Pediatric Allergy and Immunology.

Research output: Contribution to journalArticle

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection

Brigida, I., Chiriaco, M., Di Cesare, S., Cittaro, D., Di Matteo, G., Giannelli, S., Lazarevic, D., Zoccolillo, M., Stupka, E., Jenkner, A., Francalanci, P., Livadiotti, S., Morawski, A., Ravell, J., Lenardo, M., Cancrini, C., Aiuti, A. & Finocchi, A., Oct 21 2016, (Accepted/In press) In : Journal of Clinical Immunology. p. 1-4 4 p.

Research output: Contribution to journalArticle

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection

Brigida, I., Chiriaco, M., Di Cesare, S., Cittaro, D., Di Matteo, G., Giannelli, S., Lazarevic, D., Zoccolillo, M., Stupka, E., Jenkner, A., Francalanci, P., Livadiotti, S., Morawski, A., Ravell, J., Lenardo, M., Cancrini, C., Aiuti, A. & Finocchi, A., Oct 21 2016, (Accepted/In press) In : Journal of Clinical Immunology. p. 1-4 4 p.

Research output: Contribution to journalArticle

Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient

Cifaldi, C., Angelino, G., Chiriaco, M., Di Cesare, S., Claps, A., Serafinelli, J., Rossi, P., Antoccia, A., Di Matteo, G., Cancrini, C., De Villartay, J. P. & Finocchi, A., Nov 28 2016, In : Pediatric Allergy and Immunology. 28, 2, p. 203-206 4 p.

Research output: Contribution to journalArticle

2015

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease

Cotugno, N., Finocchi, A., Cagigi, A., Di Matteo, G., Chiriaco, M., Di Cesare, S., Rossi, P., Aiuti, A., Palma, P. & Douagi, I., Mar 1 2015, In : Journal of Allergy and Clinical Immunology. 135, 3, p. 753-761.e2

Research output: Contribution to journalArticle

2014

Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis

Chiriaco, M., Farinelli, G., Capo, V., Zonari, E., Scaramuzza, S., Di Matteo, G., Sergi, L. S., Migliavacca, M., Hernandez, R. J., Bombelli, F., Giorda, E., Kajaste-Rudnitski, A., Trono, D., Grez, M., Rossi, P., Finocchi, A., Naldini, L., Gentner, B. & Aiuti, A., 2014, In : Molecular Therapy. 22, 8, p. 1472-1483 12 p.

Research output: Contribution to journalArticle

Gene therapy for chronic granulomatous disease: Current status and future perspectives

Kaufmann, K. B., Chiriaco, M., Siler, U., Finocchi, A., Reichenbach, J., Stein, S. & Grez, M., Jan 1 2014, In : Current Gene Therapy. 14, 6, p. 447-460 14 p.

Research output: Contribution to journalArticle

2011

Successful treatment with percutaneous transhepatic alcoholization of a liver abscess in a child with chronic granulomatous disease

Angelino, G., Natali, G. L., Falappa, P., Folgori, L., Moretti, R., Cantarutti, N., Di Matteo, G., Chiriaco, M., Rossi, P., Roos, D., Aiuti, A. & Finocchi, A., Sep 2011, In : Pediatric Infectious Disease Journal. 30, 9, p. 819-820 2 p.

Research output: Contribution to journalArticle

2009

Identification of deletion carriers in X-linked chronic granulomatous disease by real-time PCR.

Chiriaco, M., Di Matteo, G., Sinibaldi, C., Giardina, E., Nardone, A. M., Folgori, L., D'Argenio, P., Rossi, P. & Finocchi, A., Dec 2009, In : Genetic Testing and Molecular Biomarkers. 13, 6, p. 785-789 5 p.

Research output: Contribution to journalArticle

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study

Di Matteo, G., Giordani, L., Finocchi, A., Ventura, A., Chiriaco, M., Blancato, J., Sinibaldi, C., Plebani, A., Soresina, A., Pignata, C., Dellepiane, R. M., Trizzino, A., Cossu, F., Rondelli, R., Rossi, P., De Mattia, D. & Martire, B., Jun 2009, In : Molecular Immunology. 46, 10, p. 1935-1941 7 p.

Research output: Contribution to journalArticle

2008

Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?

Graziani, S., Di Matteo, G., Benini, L., Di Cesare, S., Chiriaco, M., Chini, L., Chianca, M., De Iorio, F., La Rocca, M., Iannini, R., Corrente, S., Rossi, P. & Moschese, V., Sep 2008, In : Clinical Immunology. 128, 3, p. 322-328 7 p.

Research output: Contribution to journalArticle

Visceral leishmaniasis revealing chronic granulomatous diseases in a child

Finocchi, A., Palma, P., Di Matteo, G., Chiriaco, M., Lancella, L., Simonetti, A., Rana, I., Livadiotti, S. & Rossi, P., Jul 2008, In : International Journal of Immunopathology and Pharmacology. 21, 3, p. 739-743 5 p.

Research output: Contribution to journalArticle

2005

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono, C., Scarano, V., Cricchi, F., Melone, M. A. B., Chiriaco, M., Napolitano, A., Malandrini, A., De Michele, G., Petrozzi, L., Giraldi, C., Santoro, L., Servidei, S., Casali, C., Filla, A. & Santorelli, F. M., May 2005, In : Human Mutation. 25, 5, p. 506 1 p.

Research output: Contribution to journalArticle