Sfoglia per Autore
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation
2016-01-01 Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions
2016-01-01 Giacomelli, Mauro Simone; Kumar, Rajesh; Soresina, Annarosa; Tamassia, Nicola; Lorenzini, Tiziana; Moratto, Daniele; Gasperini, Sara; Cassatella, Marco; Plebani, Alessandro; Lougaris, Vassilios; Badolato, Raffaele
Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies
2016-01-01 Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Cardinale, Fabio; Plebani, Alessandro
Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency
2016-01-01 Prandini, Alberto; Salvi, Valentina; Colombo, Francesca; Moratto, Daniele; Lorenzi, Luisa; Vermi, William; DE FRANCESCO, Maria Antonia; Notarangelo, Lucia Dora; Porta, Fulvio; Plebani, Alessandro; Facchetti, Fabio; Sozzani, Silvano; Badolato, Raffaele
Proteus syndrome: evaluation of the immunological profile
2016-01-01 Lougaris, Vassilios; Salpietro, Vincenzo; Cutrupi, Maricia; Baronio, Manuela; Moratto, Daniele; Pizzino, M. R; Mankad, Kshitij; Briuglia, Silvana; Salpietro, Carmelo; Plebani, Alessandro
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome
2016-01-01 Lougaris, Vassilios; Facchini, Elena; Baronio, Manuela; Lorenzini, Tiziana; Moratto, Daniele; Specchia, Fernando; Plebani, Alessandro
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
2017-01-01 Dobbs, K; Tabellini, Giovanna; Calzoni, Enrica; Patrizi, Ornella; Martinez, P; Giliani, Silvia Clara; Moratto, Daniele; Al Herz, W; Cancrini, C; Cowan, M; Bleesing, J; Booth, C; Buchbinder, D; Burns, So; Chatila, Ta; Chou, J; Daza Cajigal, V; Ott de Bruin, Lm; de la Morena, M; Di Matteo, G; Finocchi, A; Geha, R; Goyal, Rk; Hayward, A; Holland, S; Huang, Ch; Kanariou, Mg; King, A; Kaplan, B; Kleva, A; Kuijpers, Tw; Lee, Bw; Lougaris, Vassilios; Massaad, M; Meyts, I; Morsheimer, M; Neven, B; Pai, Sy; Plebani, Alessandro; Prockop, S; Reisli, I; Soh, Jy; Somech, R; Torgerson, Tr; Kim, Yj; Walter, Je; Gennery, Ar; Keles, S; Manis, Jp; Marcenaro, E; Moretta, A; Parolini, Silvia; Notarangelo, L. d. 1.
Low WASp expression in patients with no apparent mutation in the WASP gene
2018-01-01 Ali, ELTAHIR ABDELRAZIG MOHAMED; Lanzi, G; Notarangelo, Ld; Mazza, C; Moratto, D; Giliani, S.
A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.
2018-01-01 Lougaris, V; Baronio, M; Gazzurelli, L; Lorenzini, T; Fuoti, M; Moratto, D; Bozzola, A; Ricci, C; Bondioni, Mp; Ravelli, A; Villanacci, V; Plebani, A.
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
2018-01-01 Saettini, Francesco; Moratto, Daniele; Grioni, Andrea; Maitz, Silvia; Iascone, MARIA ROSARIA; Rizzari, Carmelo; Pavan, Fabio; Spinelli, Marco; Bettini, Laura Rachele; Biondi, Andrea; Badolato, Raffaele
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications
2018-01-01 De Rose, Domenico Umberto; Giliani, Silvia; Notarangelo, LUCIA DORA; Lougaris, Vassilios; Lanfranchi, Arnalda; Moratto, Daniele; Martire, Baldassarre; Specchia, Fernando; Tommasini, Alberto; Plebani, Alessandro; Badolato, Raffaele
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay
2018-01-01 Lougaris, Vassilios; Chou, Janet; Baronio, Manuela; Gazzurelli, Luisa; Lorenzini, Tiziana; Soresina, Annarosa; Moratto, Daniele; Badolato, Raffaele; Seleman, Michael; Bellettato, Massimo; Geha, Raif S; Plebani, Alessandro
Collapse of the Plasmacytoid Dendritic Cells compartment in advanced cutaneous melanomas by components of the tumor cell secretome
2019-01-01 Vescovi, Raffaella; Monti, Matilde; Moratto, Daniele; Paolini, Lucia; Consoli, Francesca; Benerini Gatta, Luisa; Melocchi, Laura; Calza, Stefano; Chiudinelli, Mariella; Rossi, Giulio; Bugatti, Mattia; Maio, Michele; Fonsatti, Ester; Farisoglio, Camillo; Simbolo, Michele; Almici, Camillo; Verardi, Rosanna; Scarpa, Aldo; Bergese, Paolo; Manganoni, Ausilia; Facchetti, Fabio; Vermi, William
Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies
2019-01-01 Dotta, L.; Notarangelo, L. D.; Moratto, D.; Kumar, R.; Porta, F.; Soresina, A.; Lougaris, V.; Plebani, A.; Smith, C. I. E.; Norlin, A. -C.; Gomez Raccio, A. C.; Bubanska, E.; Bertolini, P.; Amendola, G.; Visentini, M.; Fiorilli, M.; Venuti, A.; Badolato, R.
Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation
2019-01-01 Riccardi, Niccoló; Rotulo, Gioacchino Andrea; Favilli, Federica; Loy, Anna; Moratto, Daniele; Giliani, Silvia; Mesini, Alessio; Romanini, Maria Victoria; Volpi, Stefano; Moscatelli, Andrea; Castagnola, Elio
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene
2019-01-01 Masneri, S.; Ferraro, R. M.; Lanzi, G.; Piovani, G.; Mori, L.; Barisani, C.; Moratto, D.; Plebani, A.; Badolato, R.; Soresina, A.; Giliani, S.
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
2019-01-01 Lougaris, Vassilios; Chou, Janet; Beano, Abdallah; Wallace, Jacqueline G.; Baronio, Manuela; Gazzurelli, Luisa; Lorenzini, Tiziana; Moratto, Daniele; Tabellini, Giovanna; Parolini, Silvia; Seleman, Michael; Stafstrom, Kelsey; Xu, Haiming; Harris, Chad; Geha, Raif S.; Plebani, Alessandro
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression
2019-01-01 Todaro, F.; Tamassia, N.; Pinelli, M.; Moratto, D.; Dotta, L.; Grassi, A.; Consonni, F.; Giacomelli, M.; Lionetti, P.; Gardiman, E.; Cassatella, M. A.; Gambineri, E.; Canani, R. B.; Badolato, R.
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)
2019-01-01 Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Tampella, Giacomo; Gazzurelli, Luisa; Facchetti, Mattia; Martire, Baldassarre; Cardinale, Fabio; Lanzarotto, Francesco; Bondioni, Maria Pia; Villanacci, Vincenzo; Grimbacher, Bodo; Plebani, Alessandro
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.
2019-01-01 Lougaris, V; Moratto, D; Baronio, M; Lorenzini, T; Rossi, S; Gazzurelli, L; Bondioni, Mp; Plebani, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation | 1-gen-2016 | Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele | |
| Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions | 1-gen-2016 | Giacomelli, Mauro Simone; Kumar, Rajesh; Soresina, Annarosa; Tamassia, Nicola; Lorenzini, Tiziana; Moratto, Daniele; Gasperini, Sara; Cassatella, Marco; Plebani, Alessandro; Lougaris, Vassilios; Badolato, Raffaele | |
| Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies | 1-gen-2016 | Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Cardinale, Fabio; Plebani, Alessandro | |
| Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency | 1-gen-2016 | Prandini, Alberto; Salvi, Valentina; Colombo, Francesca; Moratto, Daniele; Lorenzi, Luisa; Vermi, William; DE FRANCESCO, Maria Antonia; Notarangelo, Lucia Dora; Porta, Fulvio; Plebani, Alessandro; Facchetti, Fabio; Sozzani, Silvano; Badolato, Raffaele | |
| Proteus syndrome: evaluation of the immunological profile | 1-gen-2016 | Lougaris, Vassilios; Salpietro, Vincenzo; Cutrupi, Maricia; Baronio, Manuela; Moratto, Daniele; Pizzino, M. R; Mankad, Kshitij; Briuglia, Silvana; Salpietro, Carmelo; Plebani, Alessandro | |
| Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome | 1-gen-2016 | Lougaris, Vassilios; Facchini, Elena; Baronio, Manuela; Lorenzini, Tiziana; Moratto, Daniele; Specchia, Fernando; Plebani, Alessandro | |
| Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. | 1-gen-2017 | Dobbs, K; Tabellini, Giovanna; Calzoni, Enrica; Patrizi, Ornella; Martinez, P; Giliani, Silvia Clara; Moratto, Daniele; Al Herz, W; Cancrini, C; Cowan, M; Bleesing, J; Booth, C; Buchbinder, D; Burns, So; Chatila, Ta; Chou, J; Daza Cajigal, V; Ott de Bruin, Lm; de la Morena, M; Di Matteo, G; Finocchi, A; Geha, R; Goyal, Rk; Hayward, A; Holland, S; Huang, Ch; Kanariou, Mg; King, A; Kaplan, B; Kleva, A; Kuijpers, Tw; Lee, Bw; Lougaris, Vassilios; Massaad, M; Meyts, I; Morsheimer, M; Neven, B; Pai, Sy; Plebani, Alessandro; Prockop, S; Reisli, I; Soh, Jy; Somech, R; Torgerson, Tr; Kim, Yj; Walter, Je; Gennery, Ar; Keles, S; Manis, Jp; Marcenaro, E; Moretta, A; Parolini, Silvia; Notarangelo, L. d. 1. | |
| Low WASp expression in patients with no apparent mutation in the WASP gene | 1-gen-2018 | Ali, ELTAHIR ABDELRAZIG MOHAMED; Lanzi, G; Notarangelo, Ld; Mazza, C; Moratto, D; Giliani, S. | |
| A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy. | 1-gen-2018 | Lougaris, V; Baronio, M; Gazzurelli, L; Lorenzini, T; Fuoti, M; Moratto, D; Bozzola, A; Ricci, C; Bondioni, Mp; Ravelli, A; Villanacci, V; Plebani, A. | |
| A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency | 1-gen-2018 | Saettini, Francesco; Moratto, Daniele; Grioni, Andrea; Maitz, Silvia; Iascone, MARIA ROSARIA; Rizzari, Carmelo; Pavan, Fabio; Spinelli, Marco; Bettini, Laura Rachele; Biondi, Andrea; Badolato, Raffaele | |
| Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications | 1-gen-2018 | De Rose, Domenico Umberto; Giliani, Silvia; Notarangelo, LUCIA DORA; Lougaris, Vassilios; Lanfranchi, Arnalda; Moratto, Daniele; Martire, Baldassarre; Specchia, Fernando; Tommasini, Alberto; Plebani, Alessandro; Badolato, Raffaele | |
| Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay | 1-gen-2018 | Lougaris, Vassilios; Chou, Janet; Baronio, Manuela; Gazzurelli, Luisa; Lorenzini, Tiziana; Soresina, Annarosa; Moratto, Daniele; Badolato, Raffaele; Seleman, Michael; Bellettato, Massimo; Geha, Raif S; Plebani, Alessandro | |
| Collapse of the Plasmacytoid Dendritic Cells compartment in advanced cutaneous melanomas by components of the tumor cell secretome | 1-gen-2019 | Vescovi, Raffaella; Monti, Matilde; Moratto, Daniele; Paolini, Lucia; Consoli, Francesca; Benerini Gatta, Luisa; Melocchi, Laura; Calza, Stefano; Chiudinelli, Mariella; Rossi, Giulio; Bugatti, Mattia; Maio, Michele; Fonsatti, Ester; Farisoglio, Camillo; Simbolo, Michele; Almici, Camillo; Verardi, Rosanna; Scarpa, Aldo; Bergese, Paolo; Manganoni, Ausilia; Facchetti, Fabio; Vermi, William | |
| Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies | 1-gen-2019 | Dotta, L.; Notarangelo, L. D.; Moratto, D.; Kumar, R.; Porta, F.; Soresina, A.; Lougaris, V.; Plebani, A.; Smith, C. I. E.; Norlin, A. -C.; Gomez Raccio, A. C.; Bubanska, E.; Bertolini, P.; Amendola, G.; Visentini, M.; Fiorilli, M.; Venuti, A.; Badolato, R. | |
| Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation | 1-gen-2019 | Riccardi, Niccoló; Rotulo, Gioacchino Andrea; Favilli, Federica; Loy, Anna; Moratto, Daniele; Giliani, Silvia; Mesini, Alessio; Romanini, Maria Victoria; Volpi, Stefano; Moscatelli, Andrea; Castagnola, Elio | |
| Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene | 1-gen-2019 | Masneri, S.; Ferraro, R. M.; Lanzi, G.; Piovani, G.; Mori, L.; Barisani, C.; Moratto, D.; Plebani, A.; Badolato, R.; Soresina, A.; Giliani, S. | |
| A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency | 1-gen-2019 | Lougaris, Vassilios; Chou, Janet; Beano, Abdallah; Wallace, Jacqueline G.; Baronio, Manuela; Gazzurelli, Luisa; Lorenzini, Tiziana; Moratto, Daniele; Tabellini, Giovanna; Parolini, Silvia; Seleman, Michael; Stafstrom, Kelsey; Xu, Haiming; Harris, Chad; Geha, Raif S.; Plebani, Alessandro | |
| Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression | 1-gen-2019 | Todaro, F.; Tamassia, N.; Pinelli, M.; Moratto, D.; Dotta, L.; Grassi, A.; Consonni, F.; Giacomelli, M.; Lionetti, P.; Gardiman, E.; Cassatella, M. A.; Gambineri, E.; Canani, R. B.; Badolato, R. | |
| A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1) | 1-gen-2019 | Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Tampella, Giacomo; Gazzurelli, Luisa; Facchetti, Mattia; Martire, Baldassarre; Cardinale, Fabio; Lanzarotto, Francesco; Bondioni, Maria Pia; Villanacci, Vincenzo; Grimbacher, Bodo; Plebani, Alessandro | |
| Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. | 1-gen-2019 | Lougaris, V; Moratto, D; Baronio, M; Lorenzini, T; Rossi, S; Gazzurelli, L; Bondioni, Mp; Plebani, A. |
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