CIFALDI, CRISTINA
CIFALDI, CRISTINA
Dipartimento di Medicina dei sistemi
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
2019-01-01 Lam, M; Coppola, S; Krumbach, O; 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; Diehl, M; Akbarzadeh, M; Conti, F; Merli, P; Pastore, A; Levi Mortera, S; Camerini, S; Farina, L; Buchholzer, M; Pannone, L; Cao, T; Coban-Akdemir, Z; Jhangiani, S; Muzny, D; Gibbs, R; Basso-Ricci, L; Chiriaco, M; Dvorsky, R; Putignani, L; Carsetti, R; Janning, P; Stray-Pedersen, A; Erichsen, H; Horne, A; Bryceson, Y; Torralba-Raga, L; Ramme, K; Rosti, V; Bracaglia, C; Messia, V; Palma, P; Finocchi, A; Locatelli, F; Chinn, I; Lupski, J; Mace, E; Cancrini, C; Aiuti, A; Ahmadian, M; Orange, J; De Benedetti, F; Tartaglia, M
Case Report: Crossing a rugged road in a primary immune regulatory disorder
2022-01-01 Sgrulletti, M; Cifaldi, C; Di Cesare, S; Kroegler, B; Del Duca, E; Ferradini, V; Graziani, S; Bengala, M; Di Matteo, G; Moschese, V
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype
2023-06-01 Chiriaco, M; De Matteis, A; Cifaldi, C; Di Matteo, G; Rivalta, B; Passarelli, C; Perrone, C; Novelli, A; De Benedetti, F; Insalaco, A; Palma, P; Finocchi, A
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI)
2024-11-30 Giardino, G; Di Matteo, G; Giliani, S; Ferrari, S; Lougaris, V; Badolato, R; Conti, F; Romano, R; Cicalese, Mp; Ricci, S; Barzaghi, F; Marzollo, A; Cifaldi, C; Montin, D; Lodi, L; Cirillo, E; Martire, B; Trizzino, A; Sgrulletti, M; Moschese, V; Comegna, M; Castaldo, G; Tommasini, A; Azzari, C; Cancrini, C; Aiuti, A; Pignata, C
Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316)
2019-01-01 Cifaldi, C; Brigida, I; Barzaghi, F; Zoccolillo, M; Ferradini, V; Petricone, D; Cicalese, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Cesare, Sd; Licciardi, F; Davide, M; Ferrua, F; Canessa, C; Pignata, C; 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
Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient
2021-01-01 Conti, F; Catelli, A; Cifaldi, C; Leonardi, L; Mulè, R; Fusconi, M; Stefoni, V; Chiriaco, M; Rivalta, B; Di Cesare, S; Schifino, G; Sbrega, F; Di Matteo, G; Ferrari, S; Cancrini, C; Pession, A
Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience
2019-01-01 Lega, S; Pin, A; Arrigo, S; Cifaldi, C; Girardelli, M; Bianco, A; Malamisura, M; Angelino, G; Faraci, S; Rea, F; Romeo, E; Aloi, M; Romano, C; Barabino, A; Martelossi, S; Tommasini, A; Di Matteo, G; Cancrini, C; De Angelis, P; Finocchi, A; Bramuzzo, M
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia
2019-02-01 Chiriaco, M; Di Matteo, G; Conti, F; Petricone, D; De Luca, M; Di Cesare, S; Cifaldi, C; De Vito, R; Zoccolillo, M; Serafinelli, J; Poerio, N; Fraziano, M; Brigida, I; Cardinale, F; Rossi, P; Aiuti, A; Cancrini, C; Finocchi, A
Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept
2021-12-01 Angelino, G; Cifaldi, C; Zangari, P; Di Cesare, S; Di Matteo, G; Chiriaco, M; Francalanci, P; Faraci, S; Rea, F; Romeo, Ef; Amodio, D; Ursu, Gm; Bertocchini, A; Accinni, A; Crocoli, A; Inserra, A; Cozza, R; Romano, C; Licciardello, M; Rinelli, M; Dall'Oglio, L; Cancrini, C; De Angelis, P; Finocchi, A
Gut mucosal and fecal microbiota profiling combined to intestinal immune system in neonates affected by intestinal ischemic injuries
2020-02-01 Romani, L; Del Chierico, F; Chiriaco, M; Foligno, S; Reddel, S; Salvatori, G; Cifaldi, C; Faraci, S; Finocchi, A; Rossi, P; Bagolan, P; D'Argenio, P; Putignani, L; Fusaro, F
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
2023-03-08 Sharma, M; Leung, D; Momenilandi, M; Jones, Lcw; Pacillo, L; James, Ae; Murrell, Jr; Delafontaine, S; Maimaris, J; Vaseghi-Shanjani, M; Del Bel, Kl; Lu, Hy; Chua, Gt; Di Cesare, S; Fornes, O; Liu, Z; Di Matteo, G; Fu, Mp; Amodio, D; Tam, Iys; Chan, Gsw; Sharma, Aa; Dalmann, J; Van Der Lee, R; Blanchard-Rohner, G; Lin, S; Philippot, Q; Richmond, Pa; Lee, Jj; Matthews, A; Seear, M; Turvey, Ak; Philips, Rl; Brown-Whitehorn, Tf; Gray, Cj; Izumi, K; Treat, Jr; Wood, Kh; Lack, J; Khleborodova, A; Niemela, Je; Yang, X; Liang, R; Kui, L; Wong, Csm; Poon, Gwk; Hoischen, A; Van Der Made, Ci; Yang, J; Chan, Kw; Da Rosa Duque, Js; Lee, Ppw; Ho, Mhk; Chung, Bhy; Le, Htm; Yang, W; Rohani, P; Fouladvand, A; Rokni-Zadeh, H; Changi-Ashtiani, M; Miryounesi, M; Puel, A; Shahrooei, M; Finocchi, A; Rossi, P; Rivalta, B; Cifaldi, C; Novelli, A; Passarelli, C; Arasi, S; Bullens, D; Sauer, K; Claeys, T; Biggs, Cm; Morris, Ec; Rosenzweig, Sd; O’Shea, Jj; Wasserman, Ww; Bedford, Hm; Van Karnebeek, Cdm; Palma, P; Burns, So; Meyts, I; Casanova, Jl; Lyons, Jj; Parvaneh, N; Van Nguyen, At; Cancrini, C; Heimall, J; Ahmed, H; Mckinnon, Ml; Lau, Yl; Béziat, V; Turvey, Se
IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results
2024-07-24 Sgrulletti, M; Baselli, La; Castagnoli, R; Del Duca, E; Graziani, S; Moscato, Gmf; Di Cesare, S; Di Matteo, G; Cifaldi, C; Rossano, M; Ballerini, C; Piciocchi, A; Licari, A; Marseglia, Gl; Consolini, R; Moschese, V
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene
2018-01-01 Di Matteo, G; Chiriaco, M; Scarselli, A; Cifaldi, C; Livadiotti, S; Di Cesare, S; Ferradini, V; Aiuti, A; Rossi, P; Finocchi, A; Cancrini, C
Natural history of Ras-associated autoimmune leukoproliferative disorder: A 20-year follow-up of a NRAS-mutated patient excluding a malignant progression
2023-11-27 Rivalta, B; Attardi, E; Cifaldi, C; Rosti, V; Pacillo, L; Hajrullaj, H; Di , ; Cesare, S; Amodio, D; Algeri, M; Luciani, M; Barzaghi, F; Finocchi, A; Di , ; Matteo, G; Aiuti, A; Locatelli, F; Voso, Mt; Palumbo, G; Cancrini, C
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child with Intermittent Neutropenia
2019-01-01 Cifaldi, C; Serafinelli, J; Petricone, D; Brigida, Idcs; Di Matteo, G; Chiriaco, M; De, V; R., P; Rossi, P; Palma, P; Cancrini, C; Aiuti, Afa
Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.
2019-01-01 Zangari, P; Cifaldi, C; Di Cesare, S; Di Matteo, G; Chiriaco, M; Amodio, D; Cotugno, N; De Luca, M; Surace, C; Ladogana, S; Gardini, S; Merli, P; Algeri, M; Rossi, P; Palma, P; Cancrini, C; Finocchi, A
Novel X-linked inhibitor of apoptosis mutation in very early-onset inflammatory bowel disease child successfully treated with HLA-haploidentical hemapoietic stem cells transplant after removal of αβ+T and B cells
2017-01-01 Cifaldi, C; Chiriaco, M; Di Matteo, G; Di Cesare, S; Alessia, S; De Angelis, P; Rea, F; Angelino, G; Pastore, M; Ferradini, V; Pagliara, D; Cancrini, C; Rossi, P; Bertaina, A; Finocchi, A
Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene
2020-01-01 Cifaldi, C; Cotugno, N; Di Cesare, S; Giliani, S; Di Matteo, G; Amodio, D; Piano Mortari, E; Chiriaco, M; Buonsenso, D; Zangari, P; Pagliara, D; Gaspari, S; Carsetti, R; Palma, P; Finocchi, A; Locatelli, F; Rossi, P; Doria, M; Cancrini, C
Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies
2019-01-01 Cifaldi, C; Brigida, I; Barzaghi, F; Zoccolillo, M; Ferradini, V; Petricone, D; Cicalese, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Di Cesare, S; Licciardi, F; Forin, Dm; Ferrua, F; Canessa, C; Pignata, C; 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
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184.
2019-01-01 Cifaldi, C; Brigida, I; Barzaghi, F; Zoccolillo, M; Ferradini, V; Petricone, D; Cicalese, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Cesare, Sd; Licciardi, F; Davide, M; Ferrua, F; Canessa, C; Pignata, C; 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
Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
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1-gen-2019 | A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function | Lam, M; Coppola, S; Krumbach, O; 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; Diehl, M; Akbarzadeh, M; Conti, F; Merli, P; Pastore, A; Levi Mortera, S; Camerini, S; Farina, L; Buchholzer, M; Pannone, L; Cao, T; Coban-Akdemir, Z; Jhangiani, S; Muzny, D; Gibbs, R; Basso-Ricci, L; Chiriaco, M; Dvorsky, R; Putignani, L; Carsetti, R; Janning, P; Stray-Pedersen, A; Erichsen, H; Horne, A; Bryceson, Y; Torralba-Raga, L; Ramme, K; Rosti, V; Bracaglia, C; Messia, V; Palma, P; Finocchi, A; Locatelli, F; Chinn, I; Lupski, J; Mace, E; Cancrini, C; Aiuti, A; Ahmadian, M; Orange, J; De Benedetti, F; Tartaglia, M | Articolo su rivista | |
1-gen-2022 | Case Report: Crossing a rugged road in a primary immune regulatory disorder | Sgrulletti, M; Cifaldi, C; Di Cesare, S; Kroegler, B; Del Duca, E; Ferradini, V; Graziani, S; Bengala, M; Di Matteo, G; Moschese, V | Articolo su rivista | |
1-giu-2023 | Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype | Chiriaco, M; De Matteis, A; Cifaldi, C; Di Matteo, G; Rivalta, B; Passarelli, C; Perrone, C; Novelli, A; De Benedetti, F; Insalaco, A; Palma, P; Finocchi, A | Articolo su rivista | |
30-nov-2024 | Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI) | Giardino, G; Di Matteo, G; Giliani, S; Ferrari, S; Lougaris, V; Badolato, R; Conti, F; Romano, R; Cicalese, Mp; Ricci, S; Barzaghi, F; Marzollo, A; Cifaldi, C; Montin, D; Lodi, L; Cirillo, E; Martire, B; Trizzino, A; Sgrulletti, M; Moschese, V; Comegna, M; Castaldo, G; Tommasini, A; Azzari, C; Cancrini, C; Aiuti, A; Pignata, C | Articolo su rivista | |
1-gen-2019 | Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316) | Cifaldi, C; Brigida, I; Barzaghi, F; Zoccolillo, M; Ferradini, V; Petricone, D; Cicalese, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Cesare, Sd; Licciardi, F; Davide, M; Ferrua, F; Canessa, C; Pignata, C; 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 | Articolo su rivista | |
1-gen-2021 | Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient | Conti, F; Catelli, A; Cifaldi, C; Leonardi, L; Mulè, R; Fusconi, M; Stefoni, V; Chiriaco, M; Rivalta, B; Di Cesare, S; Schifino, G; Sbrega, F; Di Matteo, G; Ferrari, S; Cancrini, C; Pession, A | Articolo su rivista | |
1-gen-2019 | Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience | Lega, S; Pin, A; Arrigo, S; Cifaldi, C; Girardelli, M; Bianco, A; Malamisura, M; Angelino, G; Faraci, S; Rea, F; Romeo, E; Aloi, M; Romano, C; Barabino, A; Martelossi, S; Tommasini, A; Di Matteo, G; Cancrini, C; De Angelis, P; Finocchi, A; Bramuzzo, M | Articolo su rivista | |
1-feb-2019 | First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia | Chiriaco, M; Di Matteo, G; Conti, F; Petricone, D; De Luca, M; Di Cesare, S; Cifaldi, C; De Vito, R; Zoccolillo, M; Serafinelli, J; Poerio, N; Fraziano, M; Brigida, I; Cardinale, F; Rossi, P; Aiuti, A; Cancrini, C; Finocchi, A | Articolo su rivista | |
1-dic-2021 | Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept | Angelino, G; Cifaldi, C; Zangari, P; Di Cesare, S; Di Matteo, G; Chiriaco, M; Francalanci, P; Faraci, S; Rea, F; Romeo, Ef; Amodio, D; Ursu, Gm; Bertocchini, A; Accinni, A; Crocoli, A; Inserra, A; Cozza, R; Romano, C; Licciardello, M; Rinelli, M; Dall'Oglio, L; Cancrini, C; De Angelis, P; Finocchi, A | Articolo su rivista | |
1-feb-2020 | Gut mucosal and fecal microbiota profiling combined to intestinal immune system in neonates affected by intestinal ischemic injuries | Romani, L; Del Chierico, F; Chiriaco, M; Foligno, S; Reddel, S; Salvatori, G; Cifaldi, C; Faraci, S; Finocchi, A; Rossi, P; Bagolan, P; D'Argenio, P; Putignani, L; Fusaro, F | Articolo su rivista | |
8-mar-2023 | Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease | Sharma, M; Leung, D; Momenilandi, M; Jones, Lcw; Pacillo, L; James, Ae; Murrell, Jr; Delafontaine, S; Maimaris, J; Vaseghi-Shanjani, M; Del Bel, Kl; Lu, Hy; Chua, Gt; Di Cesare, S; Fornes, O; Liu, Z; Di Matteo, G; Fu, Mp; Amodio, D; Tam, Iys; Chan, Gsw; Sharma, Aa; Dalmann, J; Van Der Lee, R; Blanchard-Rohner, G; Lin, S; Philippot, Q; Richmond, Pa; Lee, Jj; Matthews, A; Seear, M; Turvey, Ak; Philips, Rl; Brown-Whitehorn, Tf; Gray, Cj; Izumi, K; Treat, Jr; Wood, Kh; Lack, J; Khleborodova, A; Niemela, Je; Yang, X; Liang, R; Kui, L; Wong, Csm; Poon, Gwk; Hoischen, A; Van Der Made, Ci; Yang, J; Chan, Kw; Da Rosa Duque, Js; Lee, Ppw; Ho, Mhk; Chung, Bhy; Le, Htm; Yang, W; Rohani, P; Fouladvand, A; Rokni-Zadeh, H; Changi-Ashtiani, M; Miryounesi, M; Puel, A; Shahrooei, M; Finocchi, A; Rossi, P; Rivalta, B; Cifaldi, C; Novelli, A; Passarelli, C; Arasi, S; Bullens, D; Sauer, K; Claeys, T; Biggs, Cm; Morris, Ec; Rosenzweig, Sd; O’Shea, Jj; Wasserman, Ww; Bedford, Hm; Van Karnebeek, Cdm; Palma, P; Burns, So; Meyts, I; Casanova, Jl; Lyons, Jj; Parvaneh, N; Van Nguyen, At; Cancrini, C; Heimall, J; Ahmed, H; Mckinnon, Ml; Lau, Yl; Béziat, V; Turvey, Se | Articolo su rivista | |
24-lug-2024 | IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results | Sgrulletti, M; Baselli, La; Castagnoli, R; Del Duca, E; Graziani, S; Moscato, Gmf; Di Cesare, S; Di Matteo, G; Cifaldi, C; Rossano, M; Ballerini, C; Piciocchi, A; Licari, A; Marseglia, Gl; Consolini, R; Moschese, V | Articolo su rivista | |
1-gen-2018 | JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene | Di Matteo, G; Chiriaco, M; Scarselli, A; Cifaldi, C; Livadiotti, S; Di Cesare, S; Ferradini, V; Aiuti, A; Rossi, P; Finocchi, A; Cancrini, C | Articolo su rivista | |
27-nov-2023 | Natural history of Ras-associated autoimmune leukoproliferative disorder: A 20-year follow-up of a NRAS-mutated patient excluding a malignant progression | Rivalta, B; Attardi, E; Cifaldi, C; Rosti, V; Pacillo, L; Hajrullaj, H; Di , ; Cesare, S; Amodio, D; Algeri, M; Luciani, M; Barzaghi, F; Finocchi, A; Di , ; Matteo, G; Aiuti, A; Locatelli, F; Voso, Mt; Palumbo, G; Cancrini, C | Articolo su rivista | |
1-gen-2019 | Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child with Intermittent Neutropenia | Cifaldi, C; Serafinelli, J; Petricone, D; Brigida, Idcs; Di Matteo, G; Chiriaco, M; De, V; R., P; Rossi, P; Palma, P; Cancrini, C; Aiuti, Afa | Articolo su rivista | |
1-gen-2019 | Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment. | Zangari, P; Cifaldi, C; Di Cesare, S; Di Matteo, G; Chiriaco, M; Amodio, D; Cotugno, N; De Luca, M; Surace, C; Ladogana, S; Gardini, S; Merli, P; Algeri, M; Rossi, P; Palma, P; Cancrini, C; Finocchi, A | Articolo su rivista | |
1-gen-2017 | Novel X-linked inhibitor of apoptosis mutation in very early-onset inflammatory bowel disease child successfully treated with HLA-haploidentical hemapoietic stem cells transplant after removal of αβ+T and B cells | Cifaldi, C; Chiriaco, M; Di Matteo, G; Di Cesare, S; Alessia, S; De Angelis, P; Rea, F; Angelino, G; Pastore, M; Ferradini, V; Pagliara, D; Cancrini, C; Rossi, P; Bertaina, A; Finocchi, A | Articolo su rivista | |
1-gen-2020 | Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene | Cifaldi, C; Cotugno, N; Di Cesare, S; Giliani, S; Di Matteo, G; Amodio, D; Piano Mortari, E; Chiriaco, M; Buonsenso, D; Zangari, P; Pagliara, D; Gaspari, S; Carsetti, R; Palma, P; Finocchi, A; Locatelli, F; Rossi, P; Doria, M; Cancrini, C | Articolo su rivista | |
1-gen-2019 | 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, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Di Cesare, S; Licciardi, F; Forin, Dm; Ferrua, F; Canessa, C; Pignata, C; 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 | Articolo su rivista | |
1-gen-2019 | Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184. | Cifaldi, C; Brigida, I; Barzaghi, F; Zoccolillo, M; Ferradini, V; Petricone, D; Cicalese, Mp; Lazarevic, D; Cittaro, D; Omrani, M; Attardi, E; Conti, F; Scarselli, A; Chiriaco, M; Cesare, Sd; Licciardi, F; Davide, M; Ferrua, F; Canessa, C; Pignata, C; 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 | Articolo su rivista |