Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Luigi D. Notarangelo"'
Autor:
Geoffrey D. E. Cuvelier, Brent R. Logan, Susan E. Prockop, Rebecca H. Buckley, Caroline Y. Kuo, Linda M. Griffith, Xuerong Liu, Alison Yip, Michael S. Hershfield, Paul G. Ayoub, Theodore B. Moore, Morna J. Dorsey, Richard J. O’Reilly, Neena Kapoor, Sung-Yun Pai, Malika Kapadia, Christen L. Ebens, Lisa R. Forbes Satter, Lauri M. Burroughs, Aleksandra Petrovic, Deepak Chellapandian, Jennifer Heimall, David C. Shyr, Ahmad Rayes, Jeffrey J. Bednarski, Sharat Chandra, Shanmuganathan Chandrakasan, Alfred P. Gillio, Lisa Madden, Troy C. Quigg, Emi H. Caywood, Blachy J. Dávila Saldaña, Kenneth DeSantes, Hesham Eissa, Frederick D. Goldman, Jacob Rozmus, Ami J. Shah, Mark T. Vander Lugt, Monica S. Thakar, Roberta E. Parrott, Caridad Martinez, Jennifer W. Leiding, Troy R. Torgerson, Michael A. Pulsipher, Luigi D. Notarangelo, Morton J. Cowan, Christopher C. Dvorak, Elie Haddad, Jennifer M. Puck, Donald B. Kohn
Publikováno v:
Blood. 140(7)
Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with A
Autor:
Brenna LaBere, Maria J. Gutierrez, Hannah Wright, Elizabeth Garabedian, Hans D. Ochs, Ramsay L. Fuleihan, Elizabeth Secord, Rebecca Marsh, Kathleen E. Sullivan, Charlotte Cunningham-Rundles, Luigi D. Notarangelo, Karin Chen
Publikováno v:
J Allergy Clin Immunol Pract
Chronic granulomatous disease (CGD) is an inborn error of immunity caused by defects in the phagocytic nicotinamide adenine dinucleotide phosphate oxidase complex, leading to increased susceptibility to infection and inflammatory autoimmune diseases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07196b7afbf7c701593593d0aad5d4e
https://europepmc.org/articles/PMC9086117/
https://europepmc.org/articles/PMC9086117/
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
Autor:
Ezekiel Bello, Marita Bosticardo, Ronald J. Meis, Sherry Koontz, Shengdar Q. Tsai, Juan C Ravell, Michael J. Lenardo, Luigi D. Notarangelo, Benjamin P. Kleinstiver, Xiaolin Wu, Cicera R. Lazzarotto, Harry L. Malech, Guillaume Vayssière, Kennichi C. Dowdell, Colin L. Sweeney, Gary A. Dahl, Taylor Q. Liu, Aaron B. Clark, Uimook Choi, Cristina Corsino, Suk See De Ravin, Siyuan Liu, Julie Brault
Publikováno v:
Blood
XMEN disease, defined as “X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus infection and N-linked glycosylation defect,” is a recently described primary immunodeficiency marked by defective T cells and natural killer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc4b75a7fdafd4fa4d8bff8e2be88729
https://europepmc.org/articles/PMC8718624/
https://europepmc.org/articles/PMC8718624/
Autor:
Danielle E. Arnold, Deepak Chellapandian, Suhag Parikh, Kanwaldeep Mallhi, Rebecca A. Marsh, Jennifer R. Heimall, Debra Grossman, Maria Chitty-Lopez, Luis Murguia-Favela, Andrew R. Gennery, Farid Boulad, Erin Arbuckle, Morton J. Cowan, Christopher C. Dvorak, Linda M. Griffith, Elie Haddad, Donald B. Kohn, Luigi D. Notarangelo, Sung-Yun Pai, Jennifer M. Puck, Michael A. Pulsipher, Troy Torgerson, Elizabeth M. Kang, Harry L. Malech, Jennifer W. Leiding
Publikováno v:
Journal of clinical immunology, vol 42, iss 5
Granulocyte transfusions are sometimes used as adjunctive therapy for the treatment of infection in patients with chronic granulomatous disease (CGD). However, granulocyte transfusions can be associated with a high rate of alloimmunization, and their
Autor:
Diana X. Nichols-Vinueza, Jennifer Cuellar-Rodriguez, Katherine R. Calvo, Seth M. Steinberg, Steven M. Holland, Thomas R. Bauer, Dennis D. Hickstein, Robert R. West, Nirali N. Shah, Mark Parta, Luigi D. Notarangelo, Amy P. Hsu
Publikováno v:
British journal of haematology. 196(1)
GATA2 deficiency was described in 2011, and shortly thereafter allogeneic hematopoietic stem cell transplantation (HSCT) was shown to reverse the hematologic disease phenotype. However, there remain major unanswered questions regarding the type of co
Autor:
Warren J. Leonard, Amy P. Hsu, Christopher Grivas, Luigi D. Notarangelo, Julia A. Segre, Kerry Dobbs, Gabriel J. Starrett, Maura Manion, Irini Sereti, Christopher B. Buck, Jordan S. Orange, Anju T Peters, Isaac Brownell, Emily M Mace, Andrea Lisco, Peiying Ye, Megan Anderson, Heidi H. Kong, Jennifer A. Kanakry, Stephanie N. Hicks, Michael I Orestes, Diana M. Proctor, Dimana Dimitrova, Dima A. Hammoud, Alvin Farrel
Publikováno v:
N Engl J Med
Human papillomavirus (HPV) infections underlie a wide spectrum of both benign and malignant epithelial diseases. In this report, we describe the case of a young man who had encephalitis caused by herpes simplex virus during adolescence and currently
Autor:
Francesca Ferrua, Ileana Bortolomai, Elena Fontana, Dario Di Silvestre, Rosita Rigoni, Genni Enza Marcovecchio, Elena Draghici, Francesca Brambilla, Maria Carmina Castiello, Gloria Delfanti, Despina Moshous, Capucine Picard, Tom Taghon, Victoria Bordon, Ansgar S. Schulz, Catharina Schuetz, Silvia Giliani, Annarosa Soresina, Andrew R. Gennery, Sara Signa, Blachy J. Dávila Saldaña, Ottavia M. Delmonte, Luigi D. Notarangelo, Chaim M. Roifman, Pietro Luigi Poliani, Paolo Uva, Pier Luigi Mauri, Anna Villa, Marita Bosticardo
Publikováno v:
Frontiers in Immunology
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology, Vol 12 (2021)
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology, Vol 12 (2021)
Major Histocompatibility Complex (MHC) class II (MHCII) deficiency (MHCII-D), also known as Bare Lymphocyte Syndrome (BLS), is a rare combined immunodeficiency due to mutations in genes regulating expression of MHCII molecules. MHCII deficiency resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b344d5c4229a7857a452efd56f9d37
Autor:
Ewelina Mamcarz, Stephen R. Daley, Blachy J. Dávila Saldaña, Jennifer M. Puck, Jason Yu, Christopher C. Dvorak, Riccardo Castagnoli, Catherine K. Chang, Ottavia M. Delmonte, Luigi D. Notarangelo, Suk See De Ravin, Morton J. Cowan, Linda M. Griffith
Publikováno v:
The Journal of allergy and clinical immunology. 149(3)
Background Development of a diverse T-cell receptor β (TRB) repertoire is associated with immune recovery following hematopoietic cell transplantation (HCT) for severe combined immunodeficiency (SCID). High-throughput sequencing of the TRB repertoir
Autor:
Luigi D. Notarangelo, Alberto Tommasini, Harry L. Malech, Samuele Naviglio, Elizabeth M. Kang, Barbara Ruaro, Francesco Salton, Kelly Corin, Marco Confalonieri, Mark Parta, Erica Valencic, Matteo Trevisan, Paola Confalonieri
X-linked Chronic Granulomatous Disease (CGD) is a rare inherited immunodeficiency characterized by early life-threatening infections from bacteria and fungi in male children. Female carriers of X-linked CGD usually do not develop any manifestations o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02e228e606a24137f8c4b695e9bad601
https://doi.org/10.21203/rs.3.rs-344043/v1
https://doi.org/10.21203/rs.3.rs-344043/v1