Sfoglia per Rivista JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
2013-01-01 Abraham, Rs; Recher, M; Giliani, Silvia Clara; Walter, Je; Lee, Yn; Frugoni, F; Maddox, De; Kirmani, S; Notarangelo, Luigi Daniele
Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity
2021-01-01 Delmonte, O. M.; Bergerson, J. R. E.; Burbelo, P. D.; Durkee-Shock, J. R.; Dobbs, K.; Bosticardo, M.; Keller, M. D.; Mcdermott, D. H.; Rao, V. K.; Dimitrova, D.; Quiros-Roldan, E.; Imberti, L.; Ferre, E. M. N.; Schmitt, M.; Lafeer, C.; Pfister, J.; Shaw, D.; Draper, D.; Truong, M.; Ulrick, J.; Dimaggio, T.; Urban, A.; Holland, S. M.; Lionakis, M. S.; Cohen, J. I.; Ricotta, E. E.; Notarangelo, L. D.; Freeman, A. F.
Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis
2017-01-01 Alberici, F.; Smith, R. M.; Fonseca, M.; Willcocks, L. C.; Jones, R. B.; Holle, J. U.; Wieczorek, S.; Neumann, T.; Martorana, D.; Gregorini, G.; Sinico, R. A.; Bruchfeld, A.; Gunnarsson, I.; Ohlsson, S.; Baslund, B.; Tesar, V.; Hruskova, Z.; Cid, M. C.; Vaglio, A.; Lyons, P. A.; Smith, K. G. C.; Jayne, D. R. W.
Asthmatic patients in COVID-19 outbreak: Few cases despite many cases
2020-01-01 Caminati, Marco; Lombardi, Carlo Mario; Micheletto, Claudio; Roca, Elena; Bigni, Barbara; Furci, Fabiana; Girelli, Domenico; Senna, Gianenrico; Crisafulli, Ernesto
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation
2018-01-01 Sereni, Lucia; Castiello, Maria Carmina; Marangoni, Francesco; Anselmo, Achille; di Silvestre, Dario; Motta, Sara; Draghici, Elena; Mantero, Stefano; Thrasher, Adrian J; Giliani, Silvia; Aiuti, Alessandro; Mauri, Pierluigi; Notarangelo, Luigi D; Bosticardo, Marita; Villa, Anna
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
2015-01-01 Crestani, Elena; Volpi, Stefano; Candotti, Fabio; Giliani, Silvia Clara; Notarangelo, Lucia Dora; Chu, Julia; Aldave Becerra, Juan Carlos; Buchbinder, David; Chou, Janet; Geha, Raif S.; Kanariou, Maria; King, Alejandra; Mazza, Cinzia; Moratto, Daniele; Sokolic, Robert; Garabedian, Elizabeth; Porta, Fulvio; Putti, Maria Caterina; Wakim, Rima H.; Tsitsikov, Erdyni; Pai, Sung Yun; Notarangelo, Luigi D.
Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.
2014-01-01 Lougaris, Vassilios; Baronio, Manuela; Vitali, Massimiliano; Tampella, Giacomo; Cattalini, Marco; Tassone, L; Soresina, A; Badolato, Raffaele; Plebani, Alessandro
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
2020-01-01 Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W M; Ameratunga, Rohan; Roifman, Chaim M; Schejter, Yael D; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A; van der Flier, Michiel; Martínez-Gallo, Mónica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, João Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deyà-Martínez, Angela; Slade, Charlotte A; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarström, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E; Freeman, Alexandra F; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; Seppänen, Mikko R J; Burns, Siobhan O; Tuijnenburg, Paul; Kuijpers, Taco W; Warnatz, Klaus; Grimbacher, Bodo
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
2009-01-01 Tassone, Laura; Notaralgelo, Ld; Bonomi, V; Savoldi, G; Sensi, A; Soresina, A; Smith, Ci; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Ld; Badolato, Raffaele
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
2016-01-01 Elkaim, Elodie; Neven, Benedicte; Bruneau, Julie; Mitsui Sekinaka, Kanako; Stanislas, Aurelie; Heurtier, Lucie; Lucas, Carrie L.; Matthews, Helen; Deau, Marie Céline; Sharapova, Svetlana; Curtis, James; Reichenbach, Janine; Glastre, Catherine; Parry, David A.; Arumugakani, Gururaj; Mcdermott, Elizabeth; Kilic, Sara Sebnem; Yamashita, Motoi; Moshous, Despina; Lamrini, Hicham; Otremba, Burkhard; Gennery, Andrew; Coulter, Tanya; Quinti, Isabella; Stephan, Jean Louis; Lougaris, Vassilios; Brodszki, Nicholas; Barlogis, Vincent; Asano, Takaki; Galicier, Lionel; Boutboul, David; Nonoyama, Shigeaki; Cant, Andrew; Imai, Kohsuke; Picard, Capucine; Nejentsev, Sergey; Molina, Thierry Jo; Lenardo, Michael; Savic, Sinisa; Cavazzana, Marina; Fischer, Alain; Durandy, Anne; Kracker, Sven
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections
2013-01-01 Dinwiddie, D. L.; Kingsmore, S. F.; Caracciolo, S.; Rossi, G.; Moratto, D.; Mazza, C.; Sabelli, C.; Bacchetta, R.; Passerini, L.; Magri, C.; Bell, C. J.; Miller, N. A.; Hateley, S. L.; Saunders, C. J.; Zhang, L.; Schroth, G. P.; Barlati, S.; Badolato, R.
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections.
2013-01-01 Darrell L., Dinwiddie; Stephen F., Kingsmore; Sonia, Caracciolo; Giuseppe, Rossi; Moratto, Daniele; Cinzia, Mazza; Cristiano, Sabelli; Rosa, Bacchetta; Laura, Passerini; Magri, Chiara; Callum J., Bell; Neil A., Miller; Shannon L., Hateley; Carol J., Saunders; Lu, Zhang; Gary P., Schroth; Barlati, Sergio; Badolato, Raffaele
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
2019-01-01 Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Abu-Halaweh, Marwan; Brigida, Immacolata; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency
2014-01-01 Kathrin, Pieper; Marta, Rizzi; Matthaios, Speletas; Cristian R., Smulski; Heiko, Sic; Helene, Kraus; Ulrich, Salzer; Gina J., Fiala; Wolfgang W., Schamel; Lougaris, Vassilios; Plebani, Alessandro; Lennart, Hammarstrom; Mike, Recher; Anastasios E., Germenis; Bodo, Grimbacher; Klaus, Warnatz; Antonius G., Rolink; Pascal, Schneider; Luigi D., Notarangelo; Hermann, Eibel
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity
2020-01-01 Cirillo, E.; Giardino, G.; Ricci, S.; Moschese, V.; Lougaris, V.; Conti, F.; Azzari, C.; Barzaghi, F.; Canessa, C.; Martire, B.; Badolato, R.; Dotta, L.; Soresina, A.; Cancrini, C.; Finocchi, A.; Montin, D.; Romano, R.; Amodio, D.; Ferrua, F.; Tommasini, A.; Baselli, L. A.; Dellepiane, R. M.; Polizzi, A.; Chessa, L.; Marzollo, A.; Cicalese, M. P.; Putti, M. C.; Pession, A.; Aiuti, A.; Locatelli, F.; Plebani, A.; Pignata, C.
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
2021-01-01 Meyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P. -Y.; Paillard, C.; Sankaran, V. G.; Demirdag, Y. Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V. A.; Guevara-Hoyer, K.; Sanchez-Ramon, S.; Bezrodnik, L.; Barzaghi, F.; Gonzalez-Granado, L. I.; Hayman, G. R.; Uzel, G.; Mendonca, L. O.; Agostini, C.; Spadaro, G.; Badolato, R.; Soresina, A.; Vermeulen, F.; Bosteels, C.; Lambrecht, B. N.; Keller, M.; Mustillo, P. J.; Abraham, R. S.; Gupta, S.; Ozen, A.; Karakoc-Aydiner, E.; Baris, S.; Freeman, A. F.; Yamazaki-Nakashimada, M.; Scheffler-Mendoza, S.; Espinosa-Padilla, S.; Gennery, A. R.; Jolles, S.; Espinosa, Y.; Poli, M. C.; Fieschi, C.; Hauck, F.; Cunningham-Rundles, C.; Mahlaoui, N.; Warnatz, K.; Sullivan, K. E.; Tangye, S. G.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome
2020-01-01 Rigoni, R.; Fontana, E.; Dobbs, K.; Marrella, V.; Taverniti, V.; Maina, V.; Facoetti, A.; D'Amico, G.; Al-Herz, W.; Cruz-Munoz, M. E.; Schuetz, C.; Gennery, A. R.; Garabedian, E. K.; Giliani, S.; Draper, D.; Dbaibo, G.; Geha, R. S.; Meyts, I.; Tousseyn, T.; Neven, B.; Moshous, D.; Fischer, A.; Schulz, A.; Finocchi, A.; Kuhns, D. B.; Fink, D. L.; Lionakis, M. S.; Swamydas, M.; Guglielmetti, S.; Alejo, J.; Myles, I. A.; Pittaluga, S.; Notarangelo, L. D.; Villa, A.; Cassani, B.
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices
2019-01-01 Daley, S. R.; Koay, H. -F.; Dobbs, K.; Bosticardo, M.; Wirasinha, R. C.; Pala, F.; Castagnoli, R.; Rowe, J. H.; Ott de Bruin, L. M.; Keles, S.; Lee, Y. N.; Somech, R.; Holland, S. M.; Delmonte, O. M.; Draper, D.; Maxwell, S.; Niemela, J.; Stoddard, J.; Rosenzweig, S. D.; Poliani, P. L.; Capo, V.; Villa, A.; Godfrey, D. I.; Notarangelo, L. D.
Defect of regulatory T cells in patients with Omenn syndrome
2010-01-01 Cassani, B; Poliani, Pietro Luigi; Moratto, D; Sobacchi, C; Marrella, V; Imperatori, L; Vairo, D; Plebani, Alessandro; Giliani, Silvia Clara; Vezzoni, P; Facchetti, Fabio; Porta, F; Notarangelo, Ld; Villa, A; Badolato, Raffaele
Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease
2015-01-01 Lougaris, Vassilios; Tabellini, Giovanna; Vitali, Massimiliano; Baronio, Manuela; Patrizi, Ornella; Tampella, Giacomo; Biasini, Augusto; Moratto, Daniele; Parolini, Silvia; Plebani, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. | 1-gen-2013 | Abraham, Rs; Recher, M; Giliani, Silvia Clara; Walter, Je; Lee, Yn; Frugoni, F; Maddox, De; Kirmani, S; Notarangelo, Luigi Daniele | |
| Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity | 1-gen-2021 | Delmonte, O. M.; Bergerson, J. R. E.; Burbelo, P. D.; Durkee-Shock, J. R.; Dobbs, K.; Bosticardo, M.; Keller, M. D.; Mcdermott, D. H.; Rao, V. K.; Dimitrova, D.; Quiros-Roldan, E.; Imberti, L.; Ferre, E. M. N.; Schmitt, M.; Lafeer, C.; Pfister, J.; Shaw, D.; Draper, D.; Truong, M.; Ulrick, J.; Dimaggio, T.; Urban, A.; Holland, S. M.; Lionakis, M. S.; Cohen, J. I.; Ricotta, E. E.; Notarangelo, L. D.; Freeman, A. F. | |
| Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis | 1-gen-2017 | Alberici, F.; Smith, R. M.; Fonseca, M.; Willcocks, L. C.; Jones, R. B.; Holle, J. U.; Wieczorek, S.; Neumann, T.; Martorana, D.; Gregorini, G.; Sinico, R. A.; Bruchfeld, A.; Gunnarsson, I.; Ohlsson, S.; Baslund, B.; Tesar, V.; Hruskova, Z.; Cid, M. C.; Vaglio, A.; Lyons, P. A.; Smith, K. G. C.; Jayne, D. R. W. | |
| Asthmatic patients in COVID-19 outbreak: Few cases despite many cases | 1-gen-2020 | Caminati, Marco; Lombardi, Carlo Mario; Micheletto, Claudio; Roca, Elena; Bigni, Barbara; Furci, Fabiana; Girelli, Domenico; Senna, Gianenrico; Crisafulli, Ernesto | |
| Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation | 1-gen-2018 | Sereni, Lucia; Castiello, Maria Carmina; Marangoni, Francesco; Anselmo, Achille; di Silvestre, Dario; Motta, Sara; Draghici, Elena; Mantero, Stefano; Thrasher, Adrian J; Giliani, Silvia; Aiuti, Alessandro; Mauri, Pierluigi; Notarangelo, Luigi D; Bosticardo, Marita; Villa, Anna | |
| Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia | 1-gen-2015 | Crestani, Elena; Volpi, Stefano; Candotti, Fabio; Giliani, Silvia Clara; Notarangelo, Lucia Dora; Chu, Julia; Aldave Becerra, Juan Carlos; Buchbinder, David; Chou, Janet; Geha, Raif S.; Kanariou, Maria; King, Alejandra; Mazza, Cinzia; Moratto, Daniele; Sokolic, Robert; Garabedian, Elizabeth; Porta, Fulvio; Putti, Maria Caterina; Wakim, Rima H.; Tsitsikov, Erdyni; Pai, Sung Yun; Notarangelo, Luigi D. | |
| Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation. | 1-gen-2014 | Lougaris, Vassilios; Baronio, Manuela; Vitali, Massimiliano; Tampella, Giacomo; Cattalini, Marco; Tassone, L; Soresina, A; Badolato, Raffaele; Plebani, Alessandro | |
| Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations | 1-gen-2020 | Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W M; Ameratunga, Rohan; Roifman, Chaim M; Schejter, Yael D; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A; van der Flier, Michiel; Martínez-Gallo, Mónica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, João Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deyà-Martínez, Angela; Slade, Charlotte A; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarström, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E; Freeman, Alexandra F; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; Seppänen, Mikko R J; Burns, Siobhan O; Tuijnenburg, Paul; Kuijpers, Taco W; Warnatz, Klaus; Grimbacher, Bodo | |
| Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients. | 1-gen-2009 | Tassone, Laura; Notaralgelo, Ld; Bonomi, V; Savoldi, G; Sensi, A; Soresina, A; Smith, Ci; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Ld; Badolato, Raffaele | |
| Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study | 1-gen-2016 | Elkaim, Elodie; Neven, Benedicte; Bruneau, Julie; Mitsui Sekinaka, Kanako; Stanislas, Aurelie; Heurtier, Lucie; Lucas, Carrie L.; Matthews, Helen; Deau, Marie Céline; Sharapova, Svetlana; Curtis, James; Reichenbach, Janine; Glastre, Catherine; Parry, David A.; Arumugakani, Gururaj; Mcdermott, Elizabeth; Kilic, Sara Sebnem; Yamashita, Motoi; Moshous, Despina; Lamrini, Hicham; Otremba, Burkhard; Gennery, Andrew; Coulter, Tanya; Quinti, Isabella; Stephan, Jean Louis; Lougaris, Vassilios; Brodszki, Nicholas; Barlogis, Vincent; Asano, Takaki; Galicier, Lionel; Boutboul, David; Nonoyama, Shigeaki; Cant, Andrew; Imai, Kohsuke; Picard, Capucine; Nejentsev, Sergey; Molina, Thierry Jo; Lenardo, Michael; Savic, Sinisa; Cavazzana, Marina; Fischer, Alain; Durandy, Anne; Kracker, Sven | |
| Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections | 1-gen-2013 | Dinwiddie, D. L.; Kingsmore, S. F.; Caracciolo, S.; Rossi, G.; Moratto, D.; Mazza, C.; Sabelli, C.; Bacchetta, R.; Passerini, L.; Magri, C.; Bell, C. J.; Miller, N. A.; Hateley, S. L.; Saunders, C. J.; Zhang, L.; Schroth, G. P.; Barlati, S.; Badolato, R. | |
| Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections. | 1-gen-2013 | Darrell L., Dinwiddie; Stephen F., Kingsmore; Sonia, Caracciolo; Giuseppe, Rossi; Moratto, Daniele; Cinzia, Mazza; Cristiano, Sabelli; Rosa, Bacchetta; Laura, Passerini; Magri, Chiara; Callum J., Bell; Neil A., Miller; Shannon L., Hateley; Carol J., Saunders; Lu, Zhang; Gary P., Schroth; Barlati, Sergio; Badolato, Raffaele | |
| A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency | 1-gen-2019 | Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Abu-Halaweh, Marwan; Brigida, Immacolata; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W | |
| A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency | 1-gen-2014 | Kathrin, Pieper; Marta, Rizzi; Matthaios, Speletas; Cristian R., Smulski; Heiko, Sic; Helene, Kraus; Ulrich, Salzer; Gina J., Fiala; Wolfgang W., Schamel; Lougaris, Vassilios; Plebani, Alessandro; Lennart, Hammarstrom; Mike, Recher; Anastasios E., Germenis; Bodo, Grimbacher; Klaus, Warnatz; Antonius G., Rolink; Pascal, Schneider; Luigi D., Notarangelo; Hermann, Eibel | |
| Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity | 1-gen-2020 | Cirillo, E.; Giardino, G.; Ricci, S.; Moschese, V.; Lougaris, V.; Conti, F.; Azzari, C.; Barzaghi, F.; Canessa, C.; Martire, B.; Badolato, R.; Dotta, L.; Soresina, A.; Cancrini, C.; Finocchi, A.; Montin, D.; Romano, R.; Amodio, D.; Ferrua, F.; Tommasini, A.; Baselli, L. A.; Dellepiane, R. M.; Polizzi, A.; Chessa, L.; Marzollo, A.; Cicalese, M. P.; Putti, M. C.; Pession, A.; Aiuti, A.; Locatelli, F.; Plebani, A.; Pignata, C. | |
| Coronavirus disease 2019 in patients with inborn errors of immunity: An international study | 1-gen-2021 | Meyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P. -Y.; Paillard, C.; Sankaran, V. G.; Demirdag, Y. Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V. A.; Guevara-Hoyer, K.; Sanchez-Ramon, S.; Bezrodnik, L.; Barzaghi, F.; Gonzalez-Granado, L. I.; Hayman, G. R.; Uzel, G.; Mendonca, L. O.; Agostini, C.; Spadaro, G.; Badolato, R.; Soresina, A.; Vermeulen, F.; Bosteels, C.; Lambrecht, B. N.; Keller, M.; Mustillo, P. J.; Abraham, R. S.; Gupta, S.; Ozen, A.; Karakoc-Aydiner, E.; Baris, S.; Freeman, A. F.; Yamazaki-Nakashimada, M.; Scheffler-Mendoza, S.; Espinosa-Padilla, S.; Gennery, A. R.; Jolles, S.; Espinosa, Y.; Poli, M. C.; Fieschi, C.; Hauck, F.; Cunningham-Rundles, C.; Mahlaoui, N.; Warnatz, K.; Sullivan, K. E.; Tangye, S. G. | |
| Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome | 1-gen-2020 | Rigoni, R.; Fontana, E.; Dobbs, K.; Marrella, V.; Taverniti, V.; Maina, V.; Facoetti, A.; D'Amico, G.; Al-Herz, W.; Cruz-Munoz, M. E.; Schuetz, C.; Gennery, A. R.; Garabedian, E. K.; Giliani, S.; Draper, D.; Dbaibo, G.; Geha, R. S.; Meyts, I.; Tousseyn, T.; Neven, B.; Moshous, D.; Fischer, A.; Schulz, A.; Finocchi, A.; Kuhns, D. B.; Fink, D. L.; Lionakis, M. S.; Swamydas, M.; Guglielmetti, S.; Alejo, J.; Myles, I. A.; Pittaluga, S.; Notarangelo, L. D.; Villa, A.; Cassani, B. | |
| Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices | 1-gen-2019 | Daley, S. R.; Koay, H. -F.; Dobbs, K.; Bosticardo, M.; Wirasinha, R. C.; Pala, F.; Castagnoli, R.; Rowe, J. H.; Ott de Bruin, L. M.; Keles, S.; Lee, Y. N.; Somech, R.; Holland, S. M.; Delmonte, O. M.; Draper, D.; Maxwell, S.; Niemela, J.; Stoddard, J.; Rosenzweig, S. D.; Poliani, P. L.; Capo, V.; Villa, A.; Godfrey, D. I.; Notarangelo, L. D. | |
| Defect of regulatory T cells in patients with Omenn syndrome | 1-gen-2010 | Cassani, B; Poliani, Pietro Luigi; Moratto, D; Sobacchi, C; Marrella, V; Imperatori, L; Vairo, D; Plebani, Alessandro; Giliani, Silvia Clara; Vezzoni, P; Facchetti, Fabio; Porta, F; Notarangelo, Ld; Villa, A; Badolato, Raffaele | |
| Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease | 1-gen-2015 | Lougaris, Vassilios; Tabellini, Giovanna; Vitali, Massimiliano; Baronio, Manuela; Patrizi, Ornella; Tampella, Giacomo; Biasini, Augusto; Moratto, Daniele; Parolini, Silvia; Plebani, Alessandro |
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