Sfoglia per Autore
Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
2016-01-01 Bronson, Paola G; Chang, Diana; Bhangale, Tushar; Seldin, Michael F; Ortmann, Ward; Ferreira, Ricardo C; Urcelay, Elena; Pereira, Luis Fernández; Martin, Javier; Plebani, Alessandro; Lougaris, Vassilios; Friman, Vanda; Freiberger, Tomáš; Litzman, Jiri; Thon, Vojtech; Pan Hammarström, Qiang; Hammarström, Lennart; Graham, Robert R; Behrens, Timothy W.
Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene
2016-01-01 Di Fonte, Roberta; Baronio, Manuela; Plebani, Alessandro; Lougaris, Vassilios; Fousteri, Georgia
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease
2016-01-01 Dotta, Laura; Scomodon, Omar; Padoan, Rita; Timpano, Silviana; Plebani, Alessandro; Soresina, Annarosa; Lougaris, Vassilios; Concolino, Daniela; Nicoletti, Angela; Giardino, Giuliana; Pignata, Claudio; Tamassia, Nicola; Facchetti, Fabio; Vairo, Donatella; 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
Beta2 integrins are required for follicular helper T cell differentiation in humans
2017-01-01 Gerosa, Jolanda; Lougaris, Vassilios; Baronio, Manuela; Plebani, Alessandro; Cicalese, Maria Pia; Fousteri, Georgia
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
2017-01-01 Tabellini, Giovanna; Vairo, Donatella; Scomodon, Omar; Tamassia, Nicola; Ferraro, Rosalba Monica; Patrizi, Ornella; Gasperini, Sara; Soresina, Annarosa; Giardino, Giuliana; Pignata, Claudio; Lougaris, Vassilios; Plebani, Alessandro; Dotta, Laura; Cassatella, Marco A.; Parolini, Silvia; Badolato, Raffaele
NFKB1 regulates human NK cell maturation and effector functions
2017-01-01 Lougaris, Vassilios; Patrizi, Ornella; Baronio, Manuela; Tabellini, Giovanna; Tampella, Giacomo; Damiati, Eufemia; Frede, Natalie; van der Meer, Jos W. M.; Fliegauf, Manfred; Grimbacher, Bodo; Parolini, Silvia; Plebani, Alessandro
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
2017-01-01 Schepp, Johanna; Proietti, Michele; Frede, Natalie; Buchta, Mary; Hübscher, Katrin; Rojas Restrepo, Jessica; Goldacker, Sigune; Warnatz, Klaus; Pachlopnik Schmid, Jana; Duppenthaler, Andrea; Lougaris, Vassilios; Uriarte, Ignacio; Kelly, Susan; Hershfield, Michael; Grimbacher, Bodo
CXCL12 mediates aberrant costimulation of B lymphocytes in warts, hypogammaglobulinemia, infections, myelokathexis immunodeficiency
2017-01-01 Roselli, Giuliana; Martini, Elisa; Lougaris, Vassilios; Badolato, Raffaele; Viola, Antonella; Kallikourdis, Marinos
Response to the Letter to the Editor Regarding âKinetics of Radiological Response of Thoracic Invasive Fungal Disease in Chronic Granulomatous Diseaseâ
2017-01-01 Bondioni, Maria P.; Lougaris, Vassilios; 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.
Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient
2018-01-01 Lanfranchi, Arnalda; Lougaris, Vassilios; Notarangelo, Lucia Dora; Soncini, Elena; Comini, Marta; Beghin, Alessandra; Bolda, Federica; Montanelli, Alessandro; Imberti, Luisa; Porta, Fulvio
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
2018-01-01 Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; Patiño, Virginia; Warnatz, Klaus; Wolff, Daniel; Hoshino, Akihiro; Kobayashi, Masao; Imai, Kohsuke; Takagi, Masatoshi; Dybedal, Ingunn; Haddock, Jamanda A.; Sansom, David M.; Lucena, Jose M.; Seidl, Maximilian; Schmitt-Graeff, Annette; Reiser, Veronika; Emmerich, Florian; Frede, Natalie; Bulashevska, Alla; Salzer, Ulrich; Schubert, Desirée; Hayakawa, Seiichi; Okada, Satoshi; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Sumnik, Zdenek; Sediva, Anna; Slatter, Mary; Arkwright, Peter D.; Cant, Andrew; Lorenz, Hanns-Martin; Giese, Thomas; Lougaris, Vassilios; Plebani, Alessandro; Price, Christina; Sullivan, Kathleen E.; Moutschen, Michel; Litzman, Jiri; Freiberger, Tomas; van de Veerdonk, Frank L.; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Pachlopnik Schmid, Jana; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Speckmann, Carsten; Ehl, Stephan; Leichtner, Alan; Blumberg, Richard; Franke, Andre; Snapper, Scott; Zeissig, Sebastian; Cunningham-Rundles, Charlotte; Giulino-Roth, Lisa; Elemento, Olivier; Dückers, Gregor; Niehues, Tim; Fronkova, Eva; Kanderová, Veronika; Platt, Craig D.; Chou, Janet; Chatila, Talal A.; Geha, Raif; Mcdermott, Elizabeth; Bunn, Su; Kurzai, Monika; Schulz, Ansgar; Alsina, Laia; Casals, Ferran; Deyà-Martinez, Angela; Hambleton, Sophie; Kanegane, Hirokazu; Taskén, Kjetil; Neth, Olaf; Grimbacher, Bodo
CTLA-4 regulates human Natural Killer cell effector functions
2018-01-01 Lougaris, Vassilios; Tabellini, Giovanna; Baronio, Manuela; Patrizi, Ornella; Gazzurelli, Luisa; Mitsuiki, Noriko; Pozzi, Maria Rosa; Grimbacher, Bodo; Parolini, Silvia; Plebani, Alessandro
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort
2018-01-01 Yazdani, Reza; Abolhassani, Hassan; Kiaee, Fatemeh; Habibi, Sima; Azizi, Gholamreza; Tavakol, Marzieh; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Momen, Tooba; Gharagozlou, Mohammad; Movahedi, Masoud; Hamidieh, Amir Ali; Behniafard, Nasrin; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Shirkani, Afshin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Arash; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Eslamian, Mohammad Hossein; Cheraghi, Taher; Dabbaghzadeh, Siamak; Tavassoli, Mahmoud; Kalmarzi, Rasoul Nasiri; Mortazavi, Seyed Hamidreza; Kashef, Sara; Esmaeilzadeh, Hossein; Tafaroji, Javad; Khalili, Abbas; Zandieh, Fariborz; Sadeghi-Shabestari, Mahnaz; Darougar, Sepideh; Behmanesh, Fatemeh; Akbari, Hedayat; Zandkarimi, Mohammadreza; Abolnezhadian, Farhad; Fayezi, Abbas; Moghtaderi, Mojgan; Ahmadiafshar, Akefeh; Shakerian, Behzad; Sajedi, Vahid; Taghvaei, Behrang; Safari, Mojgan; Heidarzadeh, Marzieh; Ghalebaghi, Babak; Fathi, Seyed Mohammad; Darabi, Behzad; Bazregari, Saeed; Bazargan, Nasrin; Fallahpour, Morteza; Khayatzadeh, Alireza; Javahertrash, Naser; Bashardoust, Bahram; Zamani, Mohammadali; Mohsenzadeh, Azam; Ebrahimi, Sarehsadat; Sharafian, Samin; Vosughimotlagh, Ahmad; Tafakoridelbari, Mitra; Rahim, Maziar; Ashournia, Parisa; Razaghian, Anahita; Rezaei, Arezoo; Samavat, Ashraf; Mamishi, Setareh; Khazaei, Hossein Ali; Mohammadi, Javad; Negahdari, Babak; Parvaneh, Nima; Rezaei, Nima; Lougaris, Vassilios; Giliani, Silvia; Plebani, Alessandro; Ochs, Hans D; Hammarström, Lennart; Aghamohammadi, Asghar
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
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.
Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency
2018-01-01 Lougaris, Vassilios; Lanzi, Gaetana; Baronio, Manuela; Gazzurelli, Luisa; Vairo, Donatella; Lorenzini, Tiziana; Badolato, Raffaele; Notarangelo, Lucia Dora; Boschi, Andrea; Moratto, Daniele; Plebani, Alessandro
Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report
2018-01-01 Cicalese, Maria Pia; Gerosa, Jolanda; Baronio, Manuela; Montin, Davide; Licciardi, Francesco; Soresina, Annarosa; Dellepiane, Rosa Maria; Miano, Maurizio; Baselli, Lucia Augusta; Volpi, Stefano; Dufour, Carlo; Plebani, Alessandro; Aiuti, Alessandro; Lougaris, Vassilios; Fousteri, Georgia
Glossotillomania as cause of Riga-Fede syndrome
2018-01-01 Gualdi, Giulio; Cammalleri, Daniele; Monari, Paola; Calzavara Pinton, Piergiacomo; Lougaris, Vassilios
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency | 1-gen-2016 | Bronson, Paola G; Chang, Diana; Bhangale, Tushar; Seldin, Michael F; Ortmann, Ward; Ferreira, Ricardo C; Urcelay, Elena; Pereira, Luis Fernández; Martin, Javier; Plebani, Alessandro; Lougaris, Vassilios; Friman, Vanda; Freiberger, Tomáš; Litzman, Jiri; Thon, Vojtech; Pan Hammarström, Qiang; Hammarström, Lennart; Graham, Robert R; Behrens, Timothy W. | |
| Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene | 1-gen-2016 | Di Fonte, Roberta; Baronio, Manuela; Plebani, Alessandro; Lougaris, Vassilios; Fousteri, Georgia | |
| Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease | 1-gen-2016 | Dotta, Laura; Scomodon, Omar; Padoan, Rita; Timpano, Silviana; Plebani, Alessandro; Soresina, Annarosa; Lougaris, Vassilios; Concolino, Daniela; Nicoletti, Angela; Giardino, Giuliana; Pignata, Claudio; Tamassia, Nicola; Facchetti, Fabio; Vairo, Donatella; 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 | |
| Beta2 integrins are required for follicular helper T cell differentiation in humans | 1-gen-2017 | Gerosa, Jolanda; Lougaris, Vassilios; Baronio, Manuela; Plebani, Alessandro; Cicalese, Maria Pia; Fousteri, Georgia | |
| Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations | 1-gen-2017 | Tabellini, Giovanna; Vairo, Donatella; Scomodon, Omar; Tamassia, Nicola; Ferraro, Rosalba Monica; Patrizi, Ornella; Gasperini, Sara; Soresina, Annarosa; Giardino, Giuliana; Pignata, Claudio; Lougaris, Vassilios; Plebani, Alessandro; Dotta, Laura; Cassatella, Marco A.; Parolini, Silvia; Badolato, Raffaele | |
| NFKB1 regulates human NK cell maturation and effector functions | 1-gen-2017 | Lougaris, Vassilios; Patrizi, Ornella; Baronio, Manuela; Tabellini, Giovanna; Tampella, Giacomo; Damiati, Eufemia; Frede, Natalie; van der Meer, Jos W. M.; Fliegauf, Manfred; Grimbacher, Bodo; Parolini, Silvia; Plebani, Alessandro | |
| Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood | 1-gen-2017 | Schepp, Johanna; Proietti, Michele; Frede, Natalie; Buchta, Mary; Hübscher, Katrin; Rojas Restrepo, Jessica; Goldacker, Sigune; Warnatz, Klaus; Pachlopnik Schmid, Jana; Duppenthaler, Andrea; Lougaris, Vassilios; Uriarte, Ignacio; Kelly, Susan; Hershfield, Michael; Grimbacher, Bodo | |
| CXCL12 mediates aberrant costimulation of B lymphocytes in warts, hypogammaglobulinemia, infections, myelokathexis immunodeficiency | 1-gen-2017 | Roselli, Giuliana; Martini, Elisa; Lougaris, Vassilios; Badolato, Raffaele; Viola, Antonella; Kallikourdis, Marinos | |
| Response to the Letter to the Editor Regarding âKinetics of Radiological Response of Thoracic Invasive Fungal Disease in Chronic Granulomatous Diseaseâ | 1-gen-2017 | Bondioni, Maria P.; Lougaris, Vassilios; 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. | |
| Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient | 1-gen-2018 | Lanfranchi, Arnalda; Lougaris, Vassilios; Notarangelo, Lucia Dora; Soncini, Elena; Comini, Marta; Beghin, Alessandra; Bolda, Federica; Montanelli, Alessandro; Imberti, Luisa; Porta, Fulvio | |
| Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects | 1-gen-2018 | Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; Patiño, Virginia; Warnatz, Klaus; Wolff, Daniel; Hoshino, Akihiro; Kobayashi, Masao; Imai, Kohsuke; Takagi, Masatoshi; Dybedal, Ingunn; Haddock, Jamanda A.; Sansom, David M.; Lucena, Jose M.; Seidl, Maximilian; Schmitt-Graeff, Annette; Reiser, Veronika; Emmerich, Florian; Frede, Natalie; Bulashevska, Alla; Salzer, Ulrich; Schubert, Desirée; Hayakawa, Seiichi; Okada, Satoshi; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Sumnik, Zdenek; Sediva, Anna; Slatter, Mary; Arkwright, Peter D.; Cant, Andrew; Lorenz, Hanns-Martin; Giese, Thomas; Lougaris, Vassilios; Plebani, Alessandro; Price, Christina; Sullivan, Kathleen E.; Moutschen, Michel; Litzman, Jiri; Freiberger, Tomas; van de Veerdonk, Frank L.; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Pachlopnik Schmid, Jana; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Speckmann, Carsten; Ehl, Stephan; Leichtner, Alan; Blumberg, Richard; Franke, Andre; Snapper, Scott; Zeissig, Sebastian; Cunningham-Rundles, Charlotte; Giulino-Roth, Lisa; Elemento, Olivier; Dückers, Gregor; Niehues, Tim; Fronkova, Eva; Kanderová, Veronika; Platt, Craig D.; Chou, Janet; Chatila, Talal A.; Geha, Raif; Mcdermott, Elizabeth; Bunn, Su; Kurzai, Monika; Schulz, Ansgar; Alsina, Laia; Casals, Ferran; Deyà-Martinez, Angela; Hambleton, Sophie; Kanegane, Hirokazu; Taskén, Kjetil; Neth, Olaf; Grimbacher, Bodo | |
| CTLA-4 regulates human Natural Killer cell effector functions | 1-gen-2018 | Lougaris, Vassilios; Tabellini, Giovanna; Baronio, Manuela; Patrizi, Ornella; Gazzurelli, Luisa; Mitsuiki, Noriko; Pozzi, Maria Rosa; Grimbacher, Bodo; Parolini, Silvia; Plebani, Alessandro | |
| Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort | 1-gen-2018 | Yazdani, Reza; Abolhassani, Hassan; Kiaee, Fatemeh; Habibi, Sima; Azizi, Gholamreza; Tavakol, Marzieh; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Momen, Tooba; Gharagozlou, Mohammad; Movahedi, Masoud; Hamidieh, Amir Ali; Behniafard, Nasrin; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Shirkani, Afshin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Arash; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Eslamian, Mohammad Hossein; Cheraghi, Taher; Dabbaghzadeh, Siamak; Tavassoli, Mahmoud; Kalmarzi, Rasoul Nasiri; Mortazavi, Seyed Hamidreza; Kashef, Sara; Esmaeilzadeh, Hossein; Tafaroji, Javad; Khalili, Abbas; Zandieh, Fariborz; Sadeghi-Shabestari, Mahnaz; Darougar, Sepideh; Behmanesh, Fatemeh; Akbari, Hedayat; Zandkarimi, Mohammadreza; Abolnezhadian, Farhad; Fayezi, Abbas; Moghtaderi, Mojgan; Ahmadiafshar, Akefeh; Shakerian, Behzad; Sajedi, Vahid; Taghvaei, Behrang; Safari, Mojgan; Heidarzadeh, Marzieh; Ghalebaghi, Babak; Fathi, Seyed Mohammad; Darabi, Behzad; Bazregari, Saeed; Bazargan, Nasrin; Fallahpour, Morteza; Khayatzadeh, Alireza; Javahertrash, Naser; Bashardoust, Bahram; Zamani, Mohammadali; Mohsenzadeh, Azam; Ebrahimi, Sarehsadat; Sharafian, Samin; Vosughimotlagh, Ahmad; Tafakoridelbari, Mitra; Rahim, Maziar; Ashournia, Parisa; Razaghian, Anahita; Rezaei, Arezoo; Samavat, Ashraf; Mamishi, Setareh; Khazaei, Hossein Ali; Mohammadi, Javad; Negahdari, Babak; Parvaneh, Nima; Rezaei, Nima; Lougaris, Vassilios; Giliani, Silvia; Plebani, Alessandro; Ochs, Hans D; Hammarström, Lennart; Aghamohammadi, Asghar | |
| 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 | |
| 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. | |
| Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency | 1-gen-2018 | Lougaris, Vassilios; Lanzi, Gaetana; Baronio, Manuela; Gazzurelli, Luisa; Vairo, Donatella; Lorenzini, Tiziana; Badolato, Raffaele; Notarangelo, Lucia Dora; Boschi, Andrea; Moratto, Daniele; Plebani, Alessandro | |
| Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report | 1-gen-2018 | Cicalese, Maria Pia; Gerosa, Jolanda; Baronio, Manuela; Montin, Davide; Licciardi, Francesco; Soresina, Annarosa; Dellepiane, Rosa Maria; Miano, Maurizio; Baselli, Lucia Augusta; Volpi, Stefano; Dufour, Carlo; Plebani, Alessandro; Aiuti, Alessandro; Lougaris, Vassilios; Fousteri, Georgia | |
| Glossotillomania as cause of Riga-Fede syndrome | 1-gen-2018 | Gualdi, Giulio; Cammalleri, Daniele; Monari, Paola; Calzavara Pinton, Piergiacomo; Lougaris, Vassilios |
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