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1.

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.

Casanova, Jean-Laurent; Su, Helen C.

Cell; 181(6): 1194-1199, 2020 06 11.

Artículo en Inglés | MEDLINE | ID: mdl-32405102

2.

Migration-induced cell shattering due to DOCK8 deficiency causes a type 2-biased helper T cell response.

Schneider, Caitlin; Shen, Connie; Gopal, Angelica A; Douglas, Todd; Forestell, Benjamin; Kauffman, Keith D; Rogers, Dakota; Artusa, Patricio; Zhang, Qian; Jing, Huie; Freeman, Alexandra F; Barber, Daniel L; King, Irah L; Saleh, Maya; Wiseman, Paul W; Su, Helen C; Mandl, Judith N.

Nat Immunol; 21(12): 1528-1539, 2020 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-33020661

3.

Dual proteolytic pathways govern glycolysis and immune competence.

Lu, Wei; Zhang, Yu; McDonald, David O; Jing, Huie; Carroll, Bernadette; Robertson, Nic; Zhang, Qian; Griffin, Helen; Sanderson, Sharon; Lakey, Jeremy H; Morgan, Neil V; Reynard, Louise N; Zheng, Lixin; Murdock, Heardley M; Turvey, Stuart E; Hackett, Scott J; Prestidge, Tim; Hall, Julie M; Cant, Andrew J; Matthews, Helen F; Koref, Mauro F Santibanez; Simon, Anna Katharina; Korolchuk, Viktor I; Lenardo, Michael J; Hambleton, Sophie; Su, Helen C.

Cell; 159(7): 1578-90, 2014 Dec 18.

Artículo en Inglés | MEDLINE | ID: mdl-25525876

4.

Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Su, Helen C; Jing, Huie; Angelus, Pam; Freeman, Alexandra F.

Immunol Rev; 287(1): 9-19, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30565250

5.

Genomics is rapidly advancing precision medicine for immunological disorders.

Zhang, Yu; Su, Helen C; Lenardo, Michael J.

Nat Immunol; 16(10): 1001-4, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-26382860

6.

Genetic determinants of host immunity against human rhinovirus infections.

Lamborn, Ian T; Su, Helen C.

Hum Genet; 139(6-7): 949-959, 2020 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-32112143

7.

The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.

Su, Helen C; Orange, Jordan S.

J Clin Immunol; 40(4): 551-553, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32417998

8.

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Ozen, Ahmet; Comrie, William A; Ardy, Rico C; Domínguez Conde, Cecilia; Dalgic, Buket; Beser, Ömer F; Morawski, Aaron R; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K; Zhang, Yu; Matthews, Helen F; Pittaluga, Stefania; Folio, Les R; Unlusoy Aksu, Aysel; McElwee, Joshua J; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B; Houwen, Roderick H J; Leavis, Helen L; Ertem, Deniz; Kain, Renate; Sari, Sinan; Erkan, Tülay; Su, Helen C; Boztug, Kaan; Lenardo, Michael J.

N Engl J Med; 377(1): 52-61, 2017 07 06.

Artículo en Inglés | MEDLINE | ID: mdl-28657829

9.

Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.

Similuk, Morgan N; Yan, Jia; Setzer, Michael R; Jamal, Leila; Littel, Patricia; Lenardo, Michael; Su, Helen C.

J Genet Couns; 2020 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-33320394

10.

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.

Buchbinder, David; Kirov, Ivan; Danielson, Jeffrey; Shah, Nirali N; Freeman, Alexandra F; Chavan, Rishikesh S; Su, Helen C.

J Clin Immunol; 39(6): 592-595, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31267431

11.

New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.

Jing, Huie; Su, Helen C.

Curr Opin Pediatr; 31(6): 815-820, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31693592

12.

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

13.

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Lo, Bernice; Fritz, Jill M; Su, Helen C; Uzel, Gulbu; Jordan, Michael B; Lenardo, Michael J.

Blood; 128(8): 1037-42, 2016 08 25.

Artículo en Inglés | MEDLINE | ID: mdl-27418640

14.

Dedicator of cytokinesis 8-deficient CD4⁺ T cells are biased to a T_H2 effector fate at the expense of T_H1 and T_H17 cells.

Tangye, Stuart G; Pillay, Bethany; Randall, Katrina L; Avery, Danielle T; Phan, Tri Giang; Gray, Paul; Ziegler, John B; Smart, Joanne M; Peake, Jane; Arkwright, Peter D; Hambleton, Sophie; Orange, Jordan; Goodnow, Christopher C; Uzel, Gulbu; Casanova, Jean-Laurent; Lugo Reyes, Saul Oswaldo; Freeman, Alexandra F; Su, Helen C; Ma, Cindy S.

J Allergy Clin Immunol; 139(3): 933-949, 2017 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-27554822

15.

Evaluation of IFITM3 rs12252 Association With Severe Pediatric Influenza Infection.

Randolph, Adrienne G; Yip, Wai-Ki; Allen, Emma Kaitlynn; Rosenberger, Carrie M; Agan, Anna A; Ash, Stephanie A; Zhang, Yu; Bhangale, Tushar R; Finkelstein, David; Cvijanovich, Natalie Z; Mourani, Peter M; Hall, Mark W; Su, Helen C; Thomas, Paul G.

J Infect Dis; 216(1): 14-21, 2017 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-28531322

16.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner, Joshua D; Vogel, Tiphanie P; Forbes, Lisa; Ma, Chi A; Stray-Pedersen, Asbjørg; Niemela, Julie E; Lyons, Jonathan J; Engelhardt, Karin R; Zhang, Yu; Topcagic, Nermina; Roberson, Elisha D O; Matthews, Helen; Verbsky, James W; Dasu, Trivikram; Vargas-Hernandez, Alexander; Varghese, Nidhy; McClain, Kenneth L; Karam, Lina B; Nahmod, Karen; Makedonas, George; Mace, Emily M; Sorte, Hanne S; Perminow, Gøri; Rao, V Koneti; O'Connell, Michael P; Price, Susan; Su, Helen C; Butrick, Morgan; McElwee, Joshua; Hughes, Jason D; Willet, Joseph; Swan, David; Xu, Yaobo; Santibanez-Koref, Mauro; Slowik, Voytek; Dinwiddie, Darrell L; Ciaccio, Christina E; Saunders, Carol J; Septer, Seth; Kingsmore, Stephen F; White, Andrew J; Cant, Andrew J; Hambleton, Sophie; Cooper, Megan A.

Blood; 125(4): 591-9, 2015 Jan 22.

Artículo en Inglés | MEDLINE | ID: mdl-25359994

17.

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.

Li, Feng-Yen; Chaigne-Delalande, Benjamin; Kanellopoulou, Chrysi; Davis, Jeremiah C; Matthews, Helen F; Douek, Daniel C; Cohen, Jeffrey I; Uzel, Gulbu; Su, Helen C; Lenardo, Michael J.

Nature; 475(7357): 471-6, 2011 Jul 27.

Artículo en Inglés | MEDLINE | ID: mdl-21796205

18.

Recent Advances in DOCK8 Immunodeficiency Syndrome.

Zhang, Qian; Jing, Huie; Su, Helen C.

J Clin Immunol; 36(5): 441-9, 2016 07.

Artículo en Inglés | MEDLINE | ID: mdl-27207373

19.

Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

Brohl, Andrew S; Stinson, Jeffrey R; Su, Helen C; Badgett, Thomas; Jennings, Chester D; Sukumar, Gauthaman; Sindiri, Sivasish; Wang, Wei; Kardava, Lela; Moir, Susan; Dalgard, Clifton L; Moscow, Jeffrey A; Khan, Javed; Snow, Andrew L.

J Clin Immunol; 35(1): 32-46, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25352053

20.

DOCK8 is critical for the survival and function of NKT cells.

Crawford, Greg; Enders, Anselm; Gileadi, Uzi; Stankovic, Sanda; Zhang, Qian; Lambe, Teresa; Crockford, Tanya L; Lockstone, Helen E; Freeman, Alexandra; Arkwright, Peter D; Smart, Joanne M; Ma, Cindy S; Tangye, Stuart G; Goodnow, Christopher C; Cerundolo, Vincenzo; Godfrey, Dale I; Su, Helen C; Randall, Katrina L; Cornall, Richard J.

Blood; 122(12): 2052-61, 2013 Sep 19.

Artículo en Inglés | MEDLINE | ID: mdl-23929855

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