Zobrazeno 1 - 10
of 381
pro vyhledávání: '"Luigi D. Notarangelo"'
Autor:
Jordan S. Orange, Riccardo Castagnoli, Elke Krüger, Marita Bosticardo, Robert A. Krance, Marietta M. de Guzman, Luigi D. Notarangelo, Lisa R. Forbes, M. Cecilia Poli, Ottavia M. Delmonte, Caridad Martinez, Frédéric Ebstein, Sarah K. Nicholas
Publikováno v:
Blood
Inborn errors of immunity that present with concomitant immunodeficiency and auto-inflammation are therapeutically challenging; furthermore, complexity is added when they are caused by mutations in genes that encode for proteins expressed beyond immu
Autor:
Luigi D. Notarangelo, Anit Kaur, Alejandro C. Briones, Ankita Singh, Anju Gupta, Pandiarajan Vignesh, Francesca Pala, Mandeep Walia, Surjit Singh, Man Updesh Singh Sachdeva, Kerry Dobbs, Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Jitendra Kumar Shandilya, Ottavia M. Delmonte, José R. Regueiro
Publikováno v:
J Clin Immunol
We report a non-consanguineous family from North-west India in which 3 siblings succumbed to a rare variant of combined immunodeficiency. All three had similar clinical and immunological profiles. However, the youngest child also developed Non-Hodgki
Autor:
Klaus Warnatz, Kohsuke Imai, Bénédicte Neven, Mette Holm, Ulrich Duffner, B Carpenter, Musa Karakukcu, Hassan Abolhassani, Robert Wynn, Neena Kapoor, Jennifer A. Kanakry, Marina Garcia-Prat, Mariacristina Menconi, Anna Mukhina, Pere Soler-Palacín, Takahiro Tomoda, Claudia Wehr, Diana K. Bayer, Eleonora Gambineri, Gulbu Uzel, Austen Worth, Arunkumar Modi, Mary Slatter, Tania Nicole Masmas, Dimana Dimitrova, Carsten Speckmann, J.J. Bleesing, Shankara Paneesha, Kanchan Rao, Sylwia Kołtan, Carmem Bonfim, Jasmeen Dara, Colin G. Steward, Winnie Ip, Emma C. Morris, Asghar Aghamohammadi, Andrew R. Gennery, Gašper Markelj, Luigi D. Notarangelo, Stephen M. Hughes, Sujal Ghosh, Tsubasa Okano, Ansgar Schulz, Arjan C. Lankester, Stephen Jolles, Ebru Yilmaz, Alexandra Laberko, Maria Elena Maccari, Stephan Ehl, Christopher C. Dvorak, Despina Moshous, Hyoung Jin Kang, Carolina Prando, Zohreh Nademi
Publikováno v:
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', Journal of Allergy and Clinical Immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
The Journal of allergy and clinical immunology, vol 149, iss 1
Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
Scientia
The Journal of allergy and clinical immunology, vol 149, iss 1
Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
Scientia
Immunodeficiència primària; Limfoproliferació; Inhibidor de mTOR Inmunodeficiencia primaria; Linfoproliferación; Inhibidor de mTOR Primary immunodeficiency; Lymphoproliferation; MTOR inhibitor Background Activated phosphoinositide 3-kinase delta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff24621d0b56e0aaf43e9d30b95d29e
https://hdl.handle.net/1887/3277790
https://hdl.handle.net/1887/3277790
Publikováno v:
British Journal of Clinical Pharmacology. 88:2500-2508
Inborn errors of immunity consist of over 400 known single gene disorders that may manifest with infection susceptibility, autoimmunity, autoinflammation, hypersensitivity and cancer predisposition. Most patients are treated symptomatically with immu
Autor:
Luigi D. Notarangelo, Alexandra F. Freeman, Jennifer S. Wilder, Veena Kapoor, Irini Sereti, Jeffrey I. Cohen, Harry L. Malech, Ronald E. Gress, Jennifer L. Sadler, Jennifer A. Kanakry, Ellen Carroll, Miranda M. Broadney, Jeremy J. Rose, Lauren R. Skeffington, Elizabeth Garabedian, Xiao-Yi Yan, Natalia S. Nunes, Amy P. Hsu, Seth M. Steinberg, Christopher G. Kanakry, Gulbu Uzel, Rochelle Fletcher, Steven M. Holland, Andrea Lisco, William G. Telford, Juan Gea-Banacloche, Nirali N. Shah, Mark Parta, Christa S. Zerbe, Daniel H. Fowler, Stephanie N. Hicks, Dimana Dimitrova, Thomas E. Hughes, Jenny E Blau
Publikováno v:
Biol Blood Marrow Transplant
Allogeneic blood or marrow transplantation (BMT) is a potentially curative therapy for patients with primary immunodeficiency (PID). Safe and effective reduced-intensity conditioning (RIC) approaches that are associated with low toxicity, use alterna
Publikováno v:
Hematology Am Soc Hematol Educ Program
Recent advances in genomics have greatly expanded the spectrum of primary immune deficiencies (PIDs). Along with the identification of pathogenic variants in novel genes, distinct phenotypes have been associated with different variants in the same ge
Autor:
Luigi D. Notarangelo, Fabian Baldin, Florian Marquardsen, Mike Recher, Slawomir M. Kosinski, Ottavia M. Delmonte, Nadia Ovchinsky
Publikováno v:
Journal of Clinical Immunology. 40:236-239
Autor:
Diego Bertoli, Ruggero Capra, Alessandra Sottini, Roberto Bresciani, Luisa Imberti, Luigi D. Notarangelo, Cristina Scarpazza
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports
Scientific Reports
Progressive multifocal leukoencephalopathy (PML) is a rare, potentially devastating myelin-degrading disease caused by the JC virus. PML occurs preferentially in patients with compromised immune system, but has been also observed in multiple sclerosi
Publikováno v:
Medical Principles and Practice. 29:101-112
Primary immunodeficiencies are disorders resulting from mutations in genes involved in immune defense and immune regulation. These conditions are characterized by various combinations of recurrent infections, autoimmunity, lymphoproliferation, inflam
Autor:
Valentina Discepolo, Meng Truong, Sayonara Mato, Andrea Lo Vecchio, Luigi D. Notarangelo, Yazmin Espinosa, Jane C. Burns, Ottavia M. Delmonte, Ugo Ramenghi, Camillo Rossi, Emma Rey, Peter D. Burbelo, Kerry Dobbs, Dana Gerstbacher, Daniela Montagna, Riccardo Castagnoli, Gina A. Montealegre Sanchez, Lesia K. Dropulic, Loreani P Noguera, Francesco Licciardi, Luisa Imberti, Helen C. Su, Maria Cecilia Vial, Adriana H. Tremoulet, John A. Chiorini, Amelia Licari, Blake M. Warner, Karyl S. Barron, Eli M Eisenstein, Jeffrey I. Cohen, Alfredo Guarino, Gian Luigi Marseglia, María Cecilia Poli, John T. Kanegaye, Chisato Shimizu
The autoantibody profile associated with known autoimmune diseases in patients with COVID-19 or multisystem inflammatory syndrome in children (MIS-C) remains poorly defined. Here we show that adults with COVID-19 had a moderate prevalence of autoanti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c4e14d9023d302dde2d3b28536660f0
https://doi.org/10.1101/2021.11.03.21265769
https://doi.org/10.1101/2021.11.03.21265769