• 269 Citations
  • 9 h-Index
20052019
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Research Output 2005 2019

  • 269 Citations
  • 9 h-Index
  • 27 Article
  • 1 Letter
2019

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

Genetic Testing
Genetic Association Studies
corrigendum
Viremia
Human Herpesvirus 4
Bacterial Infections
Immunoglobulin E
Mutation
Open Access
Severe Combined Immunodeficiency
Thrombocytopenia
Cell Count
Interleukin-7 Receptors
Mothers

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

Genetic Testing
Genetic Association Studies
Ions
Phenotype
Genes
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

Chronic Granulomatous Disease
NADPH Oxidase
T-Lymphocytes
Reactive Oxygen Species
Tissue Donors
Janus Kinase 3
Severe Combined Immunodeficiency
Mutation
Genes
Alu Elements

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

Neutropenia
Endoplasmic Reticulum
Mutation
Neutrophils
Genes
2017
10 Citations (Scopus)

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience

Angelino, G., De Angelis, P., Faraci, S., Rea, F., Romeo, E. F., Torroni, F., Tambucci, R., Claps, A., Francalanci, P., Chiriaco, M., Di Matteo, G., Cancrini, C., Palma, P., D'Argenio, P., Dall'Oglio, L., Rossi, P. & Finocchi, A., Dec 1 2017, In : Pediatric Allergy and Immunology. 28, 8, p. 801-809 9 p.

Research output: Contribution to journalArticle

Chronic Granulomatous Disease
Inflammatory Bowel Diseases
Steroids
Infection
Mesalamine
6 Citations (Scopus)

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

Lymphopenia
Epstein-Barr Virus Infections
Kaposi's Sarcoma
Gene Deletion
2 Citations (Scopus)
Inflammatory Bowel Diseases
B-Lymphocytes
Stem Cells
Nod2 Signaling Adaptor Protein
Apoptosis
4 Citations (Scopus)

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

Maccari, M. E., Scarselli, A., Di Cesare, S., Floris, M., Angius, A., Deodati, A., Chiriaco, M., Cambiaso, P., Corrente, S., Colafati, G. S., Utz, P. J., Angelini, F., Fierabracci, A., Aiuti, A., Carsetti, R., Rosenberg, J. M., Cappa, M., Rossi, P., Bacchetta, R. & Cancrini, C., Oct 1 2017, In : Clinical Immunology. 183, p. 273-277 5 p.

Research output: Contribution to journalLetter

4 Citations (Scopus)

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

Toxoplasmosis
B-Lymphocytes
T-Lymphocytes
16 Citations (Scopus)

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

Phosphatidylinositol 3-Kinases
Bacillus
Macrophages
Exome
Lymphopenia
2016
39 Citations (Scopus)

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

Chronic Granulomatous Disease
Therapeutics
Hematopoietic Stem Cell Transplantation
Genetic Therapy
Genes
6 Citations (Scopus)

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
22 Citations (Scopus)

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

Chronic Granulomatous Disease
Long-Term Memory
B-Lymphocytes
Cell Proliferation
Toll-Like Receptor 9
2014
36 Citations (Scopus)

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

Hematopoietic Stem Cells
Genetic Therapy
Chronic Granulomatous Disease
Myeloid Cells
Transgenes
20 Citations (Scopus)

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

Chronic Granulomatous Disease
Genetic Therapy
Hematopoietic Stem Cells
Genes
Phenotype
2011
2 Citations (Scopus)
5 Citations (Scopus)

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
5 Citations (Scopus)

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

Chronic Granulomatous Disease
Real-Time Polymerase Chain Reaction
Genes
Gene Dosage
Prenatal Diagnosis
31 Citations (Scopus)

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

Chronic Granulomatous Disease
Multicenter Studies
NADPH Oxidase
Mutation
X-Linked Genes
2008
12 Citations (Scopus)

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

B-Lymphocytes
Mothers
Mutation
Sclerosing Cholangitis
Pulmonary Emphysema
2 Citations (Scopus)

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

Chronic Granulomatous Disease
Visceral Leishmaniasis
Chimerism
HLA Antigens
Fluorescence In Situ Hybridization
2005
45 Citations (Scopus)

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

Hereditary Spastic Paraplegia
High Pressure Liquid Chromatography
Mutation
Phenotype
Penetrance