Pesquisa | Portal de Pesquisa da BVS

1.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

Yamashita, Motoi; Kuehn, Hye Sun; Okuyama, Kazuki; Okada, Satoshi; Inoue, Yuzaburo; Mitsuiki, Noriko; Imai, Kohsuke; Takagi, Masatoshi; Kanegane, Hirokazu; Takeuchi, Masahiro; Shimojo, Naoki; Tsumura, Miyuki; Padhi, Aditya K; Zhang, Kam Y J; Boisson, Bertrand; Casanova, Jean-Laurent; Ohara, Osamu; Rosenzweig, Sergio D; Taniuchi, Ichiro; Morio, Tomohiro.

Nat Immunol ; 22(7): 893-903, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-34155405

2.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110Î´ result in T cell senescence and human immunodeficiency.

Lucas, Carrie L; Kuehn, Hye Sun; Zhao, Fang; Niemela, Julie E; Deenick, Elissa K; Palendira, Umaimainthan; Avery, Danielle T; Moens, Leen; Cannons, Jennifer L; Biancalana, Matthew; Stoddard, Jennifer; Ouyang, Weiming; Frucht, David M; Rao, V Koneti; Atkinson, T Prescott; Agharahimi, Anahita; Hussey, Ashleigh A; Folio, Les R; Olivier, Kenneth N; Fleisher, Thomas A; Pittaluga, Stefania; Holland, Steven M; Cohen, Jeffrey I; Oliveira, Joao B; Tangye, Stuart G; Schwartzberg, Pamela L; Lenardo, Michael J; Uzel, Gulbu.

Nat Immunol ; 15(1): 88-97, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24165795

3.

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.

Artigo em Inglês | MEDLINE | ID: mdl-31827281

4.

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn, Hye Sun; Niemela, Julie E; Stoddard, Jennifer; Mannurita, Sara Ciullini; Shahin, Tala; Goel, Shubham; Hintermeyer, Mary; Heredia, Raul Jimenez; Garofalo, Mary; Lucas, Laura; Singh, Smriti; Tondo, Annalisa; Jacobs, Zachary; Gahl, William A; Latour, Sylvain; Verbsky, James; Routes, John; Cunningham-Rundles, Charlotte; Boztug, Kaan; Gambineri, Eleonora; Fleisher, Thomas A; Chandrakasan, Shanmuganathan; Rosenzweig, Sergio D.

Blood ; 137(3): 349-363, 2021 01 21.

Artigo em Inglês | MEDLINE | ID: mdl-32845957

5.

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Delmonte, 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 ; 138(12): 1019-1033, 2021 09 23.

Artigo em Inglês | MEDLINE | ID: mdl-33876203

6.

A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice.

Boast, Brigette; Miosge, Lisa A; Kuehn, Hye Sun; Cho, Vicky; Athanasopoulos, Vicki; McNamara, Hayley A; Sontani, Yovina; Mei, Yan; Howard, Debbie; Sutton, Henry J; Omari, Sofia A; Yu, Zhijia; Nasreen, Mariam; Andrews, T Daniel; Cockburn, Ian A; Goodnow, Christopher C; Rosenzweig, Sergio D; Enders, Anselm.

J Immunol ; 206(7): 1505-1514, 2021 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-33658297

7.

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.

Hwang, SuJin; Tatsi, Christina; Kuehn, Hye Sun; Niemela, Julie E; Stoddard, Jennifer; Su, Yan; Lodish, Maya; Uzel, Gulbu; Spolski, Rosanne; Leonard, Warren J; Holland, Steven M; Fleisher, Thomas A; Stratakis, Constantine A; Rosenzweig, Sergio D.

J Allergy Clin Immunol ; 149(1): 302-314, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34089750

8.

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

Deuitch, Natalie T; Yang, Dan; Lee, Pui Y; Yu, Xiaomin; Moura, Natalia Sampaio; Schnappauf, Oskar; Ombrello, Amanda K; Stone, Deborah; Kuehn, Hye Sun; Rosenzweig, Sergio D; Hoffmann, Patrycja; Cudrici, Cornelia; Levy, Deborah M; Kessler, Elizabeth; Soep, Jennifer B; Hay, Arielle D; Dalrymple, Austin; Zhang, Yu; Sun, Li; Zhang, Qiuye; Tang, Xuemei; Wu, Yuan; Rao, Koneti; Li, Haibo; Luo, Hong; Zhang, Yao; Burnham, Jon M; Boehm, Manfred; Barron, Karyl; Kastner, Daniel L; Aksentijevich, Ivona; Zhou, Qing.

J Allergy Clin Immunol ; 149(5): 1812-1816.e6, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-34780847

9.

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.

Sacco, Keith; Kuehn, Hye Sun; Kawai, Tomoki; Alsaati, Nouf; Smith, Lauren; Davila, Blachy; Bundy, Vanessa; Kuhns, Douglas B; Dobbs, Kerry; Delmonte, Ottavia; Notarangelo, Luigi D; Rosenzweig, Sergio D; Keller, Michael D.

J Clin Immunol ; 2022 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-36378426

10.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

Goel, Shubham; Kuehn, Hye Sun; Chinen, Javier; Niemela, Julie; Stoddard, Jennifer; Yamanaka, Daisuke; Garofalo, Mary; Samir, Sophia; Migaud, Melanie; Oikonomou, Vasileios; Fleisher, Thomas; Puel, Anne; Lionakis, Michail S; Rosenzweig, Sergio D.

J Clin Immunol ; 42(2): 336-349, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34791587

11.

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

Kuehn, Hye Sun; Boast, Brigette; Rosenzweig, Sergio D.

Clin Exp Immunol ; 2022 Nov 26.

Artigo em Inglês | MEDLINE | ID: mdl-36433803

12.

Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant.

Lecerf, Kelsey; Koboldt, Daniel C; Kuehn, Hye Sun; Jayaraman, Vijayakumar; Lee, Kristy; Mihalic Mosher, Theresa; Yonkof, Jennifer R; Mori, Mari; Hickey, Scott E; Franklin, Samuel; Drew, Joanne; Akoghlanian, Shoghik; Sivaraman, Vidya; Rosenzweig, Sergio D; Wilson, Richard K; Abraham, Roshini S.

Rheumatology (Oxford) ; 2022 Apr 12.

Artigo em Inglês | MEDLINE | ID: mdl-35412596

13.

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 ; 147(2): 532-544.e1, 2021 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-33007327

14.

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 01.

Artigo em Inglês | MEDLINE | ID: mdl-33392855

15.

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 ; 41(2): 335-344, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33245474

16.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Kuehn, Hye Sun; Gloude, Nicholas J; Dimmock, David; Tokita, Mari; Wright, Meredith; Rosenzweig, Sergio D; Collins, Cathleen.

J Clin Immunol ; 41(6): 1241-1249, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-33855675

17.

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 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-32386415

18.

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 10.

Artigo em Inglês | MEDLINE | ID: mdl-32681206

19.

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.

Artigo em Inglês | MEDLINE | ID: mdl-32901356

20.

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