Búsqueda | Portal de Búsqueda de la BVS España

1.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Lalaoui, Najoua; Boyden, Steven E; Oda, Hirotsugu; Wood, Geryl M; Stone, Deborah L; Chau, Diep; Liu, Lin; Stoffels, Monique; Kratina, Tobias; Lawlor, Kate E; Zaal, Kristien J M; Hoffmann, Patrycja M; Etemadi, Nima; Shield-Artin, Kristy; Biben, Christine; Tsai, Wanxia Li; Blake, Mary D; Kuehn, Hye Sun; Yang, Dan; Anderton, Holly; Silke, Natasha; Wachsmuth, Laurens; Zheng, Lixin; Moura, Natalia Sampaio; Beck, David B; Gutierrez-Cruz, Gustavo; Ombrello, Amanda K; Pinto-Patarroyo, Gineth P; Kueh, Andrew J; Herold, Marco J; Hall, Cathrine; Wang, Hongying; Chae, Jae Jin; Dmitrieva, Natalia I; McKenzie, Mark; Light, Amanda; Barham, Beverly K; Jones, Anne; Romeo, Tina M; Zhou, Qing; Aksentijevich, Ivona; Mullikin, James C; Gross, Andrew J; Shum, Anthony K; Hawkins, Edwin D; Masters, Seth L; Lenardo, Michael J; Boehm, Manfred; Rosenzweig, Sergio D; Pasparakis, Manolis.

Nature; 577(7788): 103-108, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31827281

2.

Old vaccines, new diseases: when BCG meets SPPL2a.

Rosenzweig, Sergio D.

Nat Immunol; 19(9): 906-907, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-30127437

3.

Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing Î³Î´ T Cells to Promote Immunologic Tolerance.

Fujikado, Noriyuki; Mann, Alexander O; Bansal, Kushagra; Romito, Kimberly R; Ferre, Elise M N; Rosenzweig, Sergio D; Lionakis, Michail S; Benoist, Christophe; Mathis, Diane.

Immunity; 45(5): 999-1012, 2016 11 15.

Artículo en Inglés | MEDLINE | ID: mdl-27851927

4.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Kuehn, Hye Sun; Nunes-Santos, Cristiane J; Rosenzweig, Sergio D.

J Clin Immunol; 41(1): 1-10, 2021 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-33392855

5.

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant.

Abraham, Roshini S; Marshall, Joanna M; Kuehn, Hye Sun; Rueda, Cesar M; Gibbs, Amber; Guider, Will; Stewart, Claire; Rosenzweig, Sergio D; Wang, Huanyu; Jean, Sophonie; Peeples, Mark; King, Tiffany; Hunt, W Garrett; Honegger, Jonathan R; Ramilo, Octavio; Mustillo, Peter J; Mejias, Asuncion; Ardura, Monica I; Shimamura, Masako.

J Allergy Clin Immunol; 2020 Sep 30.

Artículo en Inglés | MEDLINE | ID: mdl-33007327

6.

Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.

Howe, Matthew K; Dowdell, Kennichi; Kuehn, Hye Sun; Li, Qingxue; Hart, Geoffrey T; Garabedian, Doreen; Liepshutz, Kelly; Hsu, Amy P; Su, Hua; Niemela, Julie E; Stoddard, Jennifer L; Uzel, Gulbu; Shereck, Evan; Schulz, Laura; Feldman, Tatyana; Rosenzweig, Sergio D; Long, Eric O; Dropulic, Lesia; Cohen, Jeffrey I.

J Infect Dis; 222(7): 1170-1179, 2020 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-32386415

7.

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects.

Nunes-Santos, Cristiane J; Kuehn, Hye Sun; Rosenzweig, Sergio D.

J Clin Immunol; 2020 Nov 27.

Artículo en Inglés | MEDLINE | ID: mdl-33245474

8.

Progressive B Cell Loss in Revertant X-SCID.

Lin, Connie H; Kuehn, Hye Sun; Thauland, Timothy J; Lee, Christine M; De Ravin, Suk See; Malech, Harry L; Keyes, Timothy J; Jager, Astraea; Davis, Kara L; Garcia-Lloret, Maria I; Rosenzweig, Sergio D; Butte, Manish J.

J Clin Immunol; 40(7): 1001-1009, 2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-32681206

9.

Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D.

J Clin Immunol; 40(8): 1102, 2020 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-32901356

10.

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Kuehn, Hye Sun; Bernasconi, Andrea; Niemela, Julie E; Almejun, Maria Belen; Gallego, William Alexander Franco; Goel, Shubham; Stoddard, Jennifer L; Sánchez, Ronald Guillermo Peláez; Franco, Carlos Andrés Arango; Oleastro, Matías; Grunebaum, Eyal; Ballas, Zuhair; Cunningham-Rundles, Charlotte; Fleisher, Thomas A; Franco, José Luis; Danielian, Silvia; Rosenzweig, Sergio D.

J Clin Immunol; 40(8): 1093-1101, 2020 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-32813180

11.

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

Yilmaz, Ebru; Kuehn, Hye S; Odakir, Eda; Niemela, Julie E; Ozcan, Alper; Eken, Ahmet; Rohlfs, Meino; Cansever, Murat; Gok, Veysel; Aydin, Firdevs; Karakukcu, Musa; Hauck, Fabian; Klein, Christoph; Unal, Ekrem; Rosenzweig, Sergio D; Patiroglu, Turkan.

J Pediatr Hematol Oncol; 2020 Oct 28.

Artículo en Inglés | MEDLINE | ID: mdl-33122583

12.

PI3K pathway defects leading to immunodeficiency and immune dysregulation.

Nunes-Santos, Cristiane J; Uzel, Gulbu; Rosenzweig, Sergio D.

J Allergy Clin Immunol; 143(5): 1676-1687, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-31060715

13.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn, Hye Sun; Niemela, Julie E; Sreedhara, Karthik; Stoddard, Jennifer L; Grossman, Jennifer; Wysocki, Christian A; de la Morena, M Teresa; Garofalo, Mary; Inlora, Jingga; Snyder, Michael P; Lewis, David B; Stratakis, Constantine A; Fleisher, Thomas A; Rosenzweig, Sergio D.

Blood; 130(13): 1553-1564, 2017 09 28.

Artículo en Inglés | MEDLINE | ID: mdl-28778864

14.

Effective "activated PI3KÎ´ syndrome"-targeted therapy with the PI3KÎ´ inhibitor leniolisib.

Rao, V Koneti; Webster, Sharon; Dalm, Virgil A S H; Sedivá, Anna; van Hagen, P Martin; Holland, Steven; Rosenzweig, Sergio D; Christ, Andreas D; Sloth, Birgitte; Cabanski, Maciej; Joshi, Aniket D; de Buck, Stefan; Doucet, Julie; Guerini, Danilo; Kalis, Christoph; Pylvaenaeinen, Ilona; Soldermann, Nicolas; Kashyap, Anuj; Uzel, Gulbu; Lenardo, Michael J; Patel, Dhavalkumar D; Lucas, Carrie L; Burkhart, Christoph.

Blood; 130(21): 2307-2316, 2017 11 23.

Artículo en Inglés | MEDLINE | ID: mdl-28972011

15.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou, Qing; Yu, Xiaomin; Demirkaya, Erkan; Deuitch, Natalie; Stone, Deborah; Tsai, Wanxia Li; Kuehn, Hye Sun; Wang, Hongying; Yang, Dan; Park, Yong Hwan; Ombrello, Amanda K; Blake, Mary; Romeo, Tina; Remmers, Elaine F; Chae, Jae Jin; Mullikin, James C; Güzel, Ferhat; Milner, Joshua D; Boehm, Manfred; Rosenzweig, Sergio D; Gadina, Massimo; Welch, Steven B; Özen, Seza; Topaloglu, Rezan; Abinun, Mario; Kastner, Daniel L; Aksentijevich, Ivona.

Proc Natl Acad Sci U S A; 113(36): 10127-32, 2016 09 06.

Artículo en Inglés | MEDLINE | ID: mdl-27559085

16.

X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.

Marciano, Beatriz E; Zerbe, Christa S; Falcone, E Liana; Ding, Li; DeRavin, Suk See; Daub, Janine; Kreuzburg, Samantha; Yockey, Lynne; Hunsberger, Sally; Foruraghi, Ladan; Barnhart, Lisa A; Matharu, Kabir; Anderson, Victoria; Darnell, Dirk N; Frein, Cathleen; Fink, Danielle L; Lau, Karen P; Long Priel, Debra A; Gallin, John I; Malech, Harry L; Uzel, Gulbu; Freeman, Alexandra F; Kuhns, Douglas B; Rosenzweig, Sergio D; Holland, Steven M.

J Allergy Clin Immunol; 141(1): 365-371, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-28528201

17.

Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall, Jennifer R; Hagin, David; Hajjar, Joud; Henrickson, Sarah E; Hernandez-Trujillo, Hillary S; Tan, Yuval; Kobrynski, Lisa; Paris, Kenneth; Torgerson, Troy R; Verbsky, James W; Wasserman, Richard L; Hsieh, Elena W Y; Blessing, Jack J; Chou, Janet S; Lawrence, Monica G; Marsh, Rebecca A; Rosenzweig, Sergio D; Orange, Jordan S; Abraham, Roshini S.

J Clin Immunol; 38(3): 320-329, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29675737

18.

Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall, Jennifer R; Hagin, David; Hajjar, Joud; Henrickson, Sarah E; Hernandez-Trujillo, Hillary S; Itan, Yuval; Kobrynski, Lisa; Paris, Kenneth; Torgerson, Troy R; Verbsky, James W; Wasserman, Richard L; Hsieh, Elena W Y; Bleesing, Jack J; Chou, Janet S; Lawrence, Monica G; Marsh, Rebecca A; Rosenzweig, Sergio D; Orange, Jordan S; Abraham, Roshini S.

J Clin Immunol; 38(4): 540-541, 2018 May.

Artículo en Inglés | MEDLINE | ID: mdl-29781065

19.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou, Angeliki; Wang, Hongying; Zhou, Qing; Park, Yong Hwan; Abu-Asab, Mones S; Ylaya, Kris; Stone, Deborah L; Sediva, Anna; Sleiman, Rola; Sramkova, Lucie; Bhatla, Deepika; Serti, Elisavet; Tsai, Wanxia Li; Yang, Dan; Bishop, Kevin; Carrington, Blake; Pei, Wuhong; Deuitch, Natalie; Brooks, Stephen; Edwan, Jehad H; Joshi, Sarita; Prader, Seraina; Kaiser, Daniela; Owen, William C; Sonbul, Abdullah Al; Zhang, Yu; Niemela, Julie E; Burgess, Shawn M; Boehm, Manfred; Rehermann, Barbara; Chae, JaeJin; Quezado, Martha M; Ombrello, Amanda K; Buckley, Rebecca H; Grom, Alexi A; Remmers, Elaine F; Pachlopnik, Jana M; Su, Helen C; Gutierrez-Cruz, Gustavo; Hewitt, Stephen M; Sood, Raman; Risma, Kimberly; Calvo, Katherine R; Rosenzweig, Sergio D; Gadina, Massimo; Hafner, Markus; Sun, Hong-Wei; Kastner, Daniel L; Aksentijevich, Ivona.

Ann Rheum Dis; 77(4): 612-619, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29358286

20.

Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome.

Tatsi, Christina; Boden, Rebecca; Sinaii, Ninet; Keil, Meg; Lyssikatos, Charalampos; Belyavskaya, Elena; Rosenzweig, Sergio D; Stratakis, Constantine A; Lodish, Maya B.

Pediatr Res; 83(2): 431-437, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29211058

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: