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Research Output 2018 2019

2019

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G. & 15 others, Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A. & Pignata, C., 2019, In : Frontiers in Immunology. 10, p. 1908

Research output: Contribution to journalArticle

Severe Combined Immunodeficiency
Phenotype
Genetic Heterogeneity
Genetic Association Studies
Cell- and Tissue-Based Therapy

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
Inflammatory Bowel Diseases
Bone Marrow
Transplants
Phenotype
Inflammatory Bowel Diseases
Bone Marrow
Transplants
Phenotype
Viremia
Human Herpesvirus 4
Bacterial Infections
Immunoglobulin E
Mutation
Open Access
Severe Combined Immunodeficiency
Thrombocytopenia
Cell Count
Interleukin-7 Receptors
Mothers

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., Cancrini, C. & 55 others, Palma, P., Bertaina, A., Locatelli, F., Di Matteo, G., Geha, R. S., Kanariou, M. G., Lycopoulou, L., Tzanoudaki, M., Sleasman, J. W., Parikh, S., Pinero, G., Fischer, B. M., Dbaibo, G., Unal, E., Patiroglu, T., Karakukcu, M., Al-Saad, K. K., Dilley, M. A., Pai, S-Y., Dutmer, C. M., Gelfand, E. W., Geier, C. B., Eibl, M. M., Wolf, H. M., Henderson, L. A., Hazen, M. M., Bonfim, C., Wolska-Kuśnierz, B., Butte, M. J., Hernandez, J. D., Nicholas, S. K., Stepensky, P., Chandrakasan, S., Miano, M., Westermann-Clark, E., Goda, V., Kriván, G., Holland, S. M., Fadugba, O., Henrickson, S. E., Ozen, A., Karakoc-Aydiner, E., Baris, S., Kiykim, A., Bredius, R., Hoeger, B., Boztug, K., Pashchenko, O., Neven, B., Moshous, D., Villartay, J-P. D., Bousfiha, A. A., Hill, H. R., Notarangelo, L. D. & Walter, J. E., Mar 12 2019, In : Journal of Allergy and Clinical Immunology: In Practice.

Research output: Contribution to journalArticle

Autoimmunity
Genetic Recombination
Idiopathic Thrombocytopenic Purpura
Genes
Neutropenia

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