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Material Type: Artigo
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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiencyJolan E. Walter Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Blessing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz Tavares Costa-Carvalho; João Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D NotarangeloJournal of Clinical Investigation Ann Arbor v. 125, n. 11, p. 4135-4148, 2015Ann Arbor 2015Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Primary B cell immunodeficiencies: comparisons and contrastsConley, Mary Ellen ; Dobbs, A Kerry ; Farmer, Dana M ; Kilic, Sebnem ; Paris, Kenneth ; Grigoriadou, Sofia ; Coustan-Smith, Elaine ; Howard, Vanessa ; Campana, DarioAnnual review of immunology, 2009-01, Vol.27 (1), p.199-227 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationDelmonte, Ottavia M. ; Bergerson, Jenna R.E. ; Kawai, Tomoki ; Kuehn, Hye Sun ; McDermott, David H. ; Cortese, Irene ; Zimmermann, Michael T. ; Dobbs, A. Kerry ; Bosticardo, Marita ; Fink, Danielle ; Majumdar, Shamik ; Palterer, Boaz ; Pala, Francesca ; Dsouza, Nikita R. ; Pouzolles, Marie ; Taylor, Naomi ; Calvo, Katherine R. ; Daley, Stephen R. ; Velez, Daniel ; Agharahimi, Anahita ; Myint-Hpu, Katherine ; Dropulic, Lesia K. ; Lyons, Jonathan J. ; Holland, Steven M. ; Freeman, Alexandra F. ; Ghosh, Rajarshi ; Similuk, Morgan B. ; Niemela, Julie E. ; Stoddard, Jennifer ; Kuhns, Douglas B. ; Urrutia, Raul ; Rosenzweig, Sergio D. ; Walkiewicz, Magdalena A. ; Murphy, Philip M. ; Notarangelo, Luigi D.Blood, 2021-09, Vol.138 (12), p.1019-1033 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neuronsTsui, Michael ; Biro, Jeremy ; Chan, Jonathan ; Min, Weixian ; Dobbs, Kerry ; Notarangelo, Luigi D ; Grunebaum, EyalScientific reports, 2022-05, Vol.12 (1), p.9084-9084, Article 9084 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil DevelopmentTsui, Michael ; Min, Weixian ; Ng, Stephanie ; Dobbs, Kerry ; Notarangelo, Luigi D ; Dror, Yigal ; Grunebaum, EyalFrontiers in immunology, 2021-10, Vol.12, p.748519-748519 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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PAX1 is essential for development and function of the human thymusYamazaki, Yasuhiro ; Urrutia, Raul ; Franco, Luis M ; Giliani, Silvia ; Zhang, Kejian ; Alazami, Anas M ; Dobbs, A Kerry ; Masneri, Stefania ; Joshi, Avni ; Otaizo-Carrasquero, Francisco ; Myers, Timothy G ; Ganesan, Sundar ; Bondioni, Maria Pia ; Ho, Mai Lan ; Marks, Catherine ; Alajlan, Huda ; Mohammed, Reem W ; Zou, Fanggeng ; Valencia, C Alexander ; Filipovich, Alexandra H ; Facchetti, Fabio ; Boisson, Bertrand ; Azzari, Chiara ; Al-Saud, Bander K ; Al-Mousa, Hamoud ; Casanova, Jean Laurent ; Abraham, Roshini S ; Notarangelo, Luigi DScience immunology, 2020-02, Vol.5 (44) [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresiasChen, Rui, PhD ; Giliani, Silvia, PhD ; Lanzi, Gaetana, PhD ; Mias, George I., PhD ; Lonardi, Silvia, BS ; Dobbs, Kerry, BS ; Manis, John, MD ; Im, Hogune, PhD ; Gallagher, Jennifer E., PhD ; Phanstiel, Douglas H., PhD ; Euskirchen, Ghia, PhD ; Lacroute, Philippe, PhD ; Bettinger, Keith, MS ; Moratto, Daniele, PhD ; Weinacht, Katja, MD ; Montin, Davide, MD ; Gallo, Eleonora, MD ; Mangili, Giovanna, MD ; Porta, Fulvio, MD ; Notarangelo, Lucia D., MD ; Pedretti, Stefania, MD ; Al-Herz, Waleed, MD ; Alfahdli, Wasmi, MD ; Comeau, Anne Marie, PhD ; Traister, Russell S., MD, PhD ; Pai, Sung-Yun, MD ; Carella, Graziella, PhD ; Facchetti, Fabio, MD ; Nadeau, Kari C., MD, PhD ; Snyder, Michael, PhD ; Notarangelo, Luigi D., MDJournal of allergy and clinical immunology, 2013-09, Vol.132 (3), p.656-664.e17 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stressRissone, Alberto ; Weinacht, Katja Gabriele ; la Marca, Giancarlo ; Bishop, Kevin ; Giocaliere, Elisa ; Jagadeesh, Jayashree ; Felgentreff, Kerstin ; Dobbs, Kerry ; Al-Herz, Waleed ; Jones, Marypat ; Chandrasekharappa, Settara ; Kirby, Martha ; Wincovitch, Stephen ; Simon, Karen Lyn ; Itan, Yuval ; DeVine, Alex ; Schlaeger, Thorsten ; Schambach, Axel ; Sood, Raman ; Notarangelo, Luigi D ; Candotti, FabioThe Journal of experimental medicine, 2015-07, Vol.212 (8), p.1185-1202 [Periódico revisado por pares]United States: The Rockefeller University PressTexto completo disponível |
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Material Type: Artigo
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A novel mutation in the POLE2 gene causing combined immunodeficiencyFrugoni, Francesco, PhD ; Dobbs, Kerry, BS ; Felgentreff, Kerstin, MD ; Aldhekri, Hasan, MD ; Al Saud, Bandar K., MBBS ; Arnaout, Rand, MBBS ; Ali, Afshan Ashraf, MD ; Abhyankar, Avinash, MD, PhD ; Alroqi, Fayhan, MD ; Giliani, Silvia, PhD ; Ojeda, Mayra Martinez, MD ; Tsitsikov, Erdyni, PhD ; Pai, Sung-Yun, MD ; Casanova, Jean Laurent, MD, PhD ; Notarangelo, Luigi D., MD ; Manis, John P., MDJournal of allergy and clinical immunology, 2016-02, Vol.137 (2), p.635-638.e1 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Prognostic value of serum/plasma neurofilament light chain for COVID‐19‐associated mortalityMasvekar, Ruturaj R. ; Kosa, Peter ; Jin, Kimberly ; Dobbs, Kerry ; Stack, Michael A. ; Castagnoli, Riccardo ; Quaresima, Virginia ; Su, Helen C. ; Imberti, Luisa ; Notarangelo, Luigi D. ; Bielekova, BibianaAnnals of clinical and translational neurology, 2022-05, Vol.9 (5), p.622-632 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |