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1.

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

2.

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

3.

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF.

Mitchell, Amelia L; Urban, Amanda K; Freeman, Alexandra F; Hammoud, Dima A.

J Clin Immunol; 41(3): 576-584, 2021 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-33404973

4.

Daratumumab for delayed RBC engraftment following major ABO mismatched haploidentical bone marrow transplantation.

Yates, Bonnie; Molloy, Eoghan; Dulau-Florea, Alina; Braylan, Raul; Hogan, Laura; Hickstein, Dennis D; Freeman, Alexandra F; Kalsi, Shelley S; Shah, Nirali N.

Transfusion; 2021 Feb 02.

Artículo en Inglés | MEDLINE | ID: mdl-33528026

5.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley J F; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan.

Nucleic Acids Res; 47(D1): D1018-D1027, 2019 01 08.

Artículo en Inglés | MEDLINE | ID: mdl-30476213

6.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.

Meyts, Isabelle; Bucciol, Giorgia; Quinti, Isabella; Neven, Bénédicte; Fischer, Alain; Seoane, Elena; Lopez-Granados, Eduardo; Gianelli, Carla; Robles-Marhuenda, Angel; Jeandel, Pierre-Yves; Paillard, Catherine; Sankaran, Vijay G; Demirdag, Yesim Yilmaz; Lougaris, Vassilios; Aiuti, Alessandro; Plebani, Alessandro; Milito, Cinzia; Dalm, Virgil Ash; Guevara-Hoyer, Kissy; Sánchez-Ramón, Silvia; Bezrodnik, Liliana; Barzaghi, Federica; Gonzalez-Granado, Luis Ignacio; Hayman, Grant R; Uzel, Gulbu; Mendonça, Leonardo Oliveira; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Soresina, Annarosa; Vermeulen, François; Bosteels, Cedric; Lambrecht, Bart N; Keller, Michael; Mustillo, Peter J; Abraham, Roshini S; Gupta, Sudhir; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Freeman, Alexandra F; Yamazaki-Nakashimada, Marco; Scheffler-Mendoza, Selma; Espinosa-Padilla, Sara; Gennery, Andrew R; Jolles, Stephen; Espinosa, Yazmin; Poli, M Cecilia; Fieschi, Claire; Hauck, Fabian.

J Allergy Clin Immunol; 2020 Sep 24.

Artículo en Inglés | MEDLINE | ID: mdl-32980424

7.

Evaluation of Genotypic Antiviral Resistance Testing as an Alternative to Phenotypic Testing in a Patient with DOCK8 Deficiency and Severe HSV-1 Disease.

Casto, Amanda M; Stout, Sean C; Selvarangan, Rangaraj; Freeman, Alexandra F; Newell, Brandon D; Stahl, Erin D; Ahmed, Atif A; Greninger, Alexander L; Yin, Dwight E.

J Infect Dis; 221(12): 2035-2042, 2020 Jun 11.

Artículo en Inglés | MEDLINE | ID: mdl-31970398

8.

Immune Reconstitution Inflammatory Syndrome as a Posttransplantation Complication in Primary Immunodeficiency With Disseminated Mycobacterium avium.

Manion, Maura; Dimitrova, Dimana; Pei, Luxin; Gea-Banacloche, Juan; Zelazny, Adrian; Lisco, Andrea; Zerbe, Christa; Freeman, Alexandra F; Holland, Steven M; Kanakry, Christopher G; Kanakry, Jennifer A; Sereti, Irini.

Clin Infect Dis; 70(4): 676-679, 2020 02 03.

Artículo en Inglés | MEDLINE | ID: mdl-31190050

9.

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases.

Dimitrova, Dimana; Gea-Banacloche, Juan; Steinberg, Seth M; Sadler, Jennifer L; Hicks, Stephanie N; Carroll, Ellen; Wilder, Jennifer S; Parta, Mark; Skeffington, Lauren; Hughes, Thomas E; Blau, Jenny E; Broadney, Miranda M; Rose, Jeremy J; Hsu, Amy P; Fletcher, Rochelle; Nunes, Natalia S; Yan, Xiao-Yi; Telford, William G; Kapoor, Veena; Cohen, Jeffrey I; Freeman, Alexandra F; Garabedian, Elizabeth; Holland, Steven M; Lisco, Andrea; Malech, Harry L; Notarangelo, Luigi D; Sereti, Irini; Shah, Nirali N; Uzel, Gulbu; Zerbe, Christa S; Fowler, Daniel H; Gress, Ronald E; Kanakry, Christopher G; Kanakry, Jennifer A.

Biol Blood Marrow Transplant; 26(1): 94-106, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31493539

10.

A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory.

Siegel, Andrea M; Heimall, Jennifer; Freeman, Alexandra F; Hsu, Amy P; Brittain, Erica; Brenchley, Jason M; Douek, Daniel C; Fahle, Gary H; Cohen, Jeffrey I; Holland, Steven M; Milner, Joshua D.

Immunity; 35(5): 806-18, 2011 Nov 23.

Artículo en Inglés | MEDLINE | ID: mdl-22118528

11.

The Child with Elevated IgE and Infection Susceptibility.

Freeman, Alexandra F; Milner, Joshua D.

Curr Allergy Asthma Rep; 20(11): 65, 2020 Aug 24.

Artículo en Inglés | MEDLINE | ID: mdl-32830295

12.

Human T_H9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

Zhang, Yuan; Siegel, Andrea M; Sun, Guangping; Dimaggio, Tom; Freeman, Alexandra F; Milner, Joshua D.

J Allergy Clin Immunol; 143(3): 1108-1118.e4, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30030006

13.

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

Peled, Alon; Sarig, Ofer; Sun, Guangping; Samuelov, Liat; Ma, Chi A; Zhang, Yuan; Dimaggio, Tom; Nelson, Celeste G; Stone, Kelly D; Freeman, Alexandra F; Malki, Liron; Vidal, Lucia Seminario; Chamarthy, Latha M; Briskin, Valeria; Mohamad, Janan; Pavlovsky, Mor; Walter, Jolan E; Milner, Joshua D; Sprecher, Eli.

J Allergy Clin Immunol; 143(1): 173-181.e10, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30248356

14.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal, Batsukh; Stinson, Jeffrey R; Ma, Chi A; Weinreich, Michael A; Miraghazadeh, Bahar; Hartberger, Julia M; Frey-Jakobs, Stefanie; Weidinger, Stephan; Moebus, Lena; Franke, Andre; Schäffer, Alejandro A; Bulashevska, Alla; Fuchs, Sebastian; Ehl, Stephan; Limaye, Sandhya; Arkwright, Peter D; Briggs, Tracy A; Langley, Claire; Bethune, Claire; Whyte, Andrew F; Alachkar, Hana; Nejentsev, Sergey; DiMaggio, Thomas; Nelson, Celeste G; Stone, Kelly D; Nason, Martha; Brittain, Erica H; Oler, Andrew J; Veltri, Daniel P; Leahy, T Ronan; Conlon, Niall; Poli, Maria C; Borzutzky, Arturo; Cohen, Jeffrey I; Davis, Joie; Lambert, Michele P; Romberg, Neil; Sullivan, Kathleen E; Paris, Kenneth; Freeman, Alexandra F; Lucas, Laura; Chandrakasan, Shanmuganathan; Savic, Sinisa; Hambleton, Sophie; Patel, Smita Y; Jordan, Michael B; Theos, Amy; Lebensburger, Jeffrey; Atkinson, T Prescott; Torgerson, Troy R.

J Allergy Clin Immunol; 143(4): 1482-1495, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30170123

15.

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

16.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández, Alexander; Mace, Emily M; Zimmerman, Ofer; Zerbe, Christa S; Freeman, Alexandra F; Rosenzweig, Sergio; Leiding, Jennifer W; Torgerson, Troy; Altman, Matthew C; Schussler, Edith; Cunningham-Rundles, Charlotte; Chinn, Ivan K; Carisey, Alexandre F; Hanson, Imelda C; Rider, Nicholas L; Holland, Steven M; Orange, Jordan S; Forbes, Lisa R.

J Allergy Clin Immunol; 141(6): 2142-2155.e5, 2018 06.

Artículo en Inglés | MEDLINE | ID: mdl-29111217

17.

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

18.

The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease.

Straughan, David M; McLoughlin, Kaitlin C; Mullinax, John E; Marciano, Beatriz E; Freeman, Alexandra F; Anderson, Victoria L; Uzel, Gulbu; Azoury, Said C; Sorber, Rebecca; Quadri, Humair S; Malech, Harry L; DeRavin, Suk See; Kamal, Natasha; Koh, Christopher; Zerbe, Christa S; Kuhns, Douglas B; Gallin, John I; Heller, Theo; Holland, Steven M; Rudloff, Udo.

Clin Infect Dis; 66(9): 1427-1434, 2018 04 17.

Artículo en Inglés | MEDLINE | ID: mdl-29145578

19.

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rß1-Deficient Peruvian Girl.

Esteve-Sole, Ana; Sánchez-Dávila, Suly P; Deyà-Martínez, Angela; Freeman, Alexandra F; Zelazny, Adrian M; Dekker, John P; Khil, Pavel P; Holland, Steven M; Noguera-Julian, Antoni; Bustamante, Jacinta; Casanova, Jean-Laurent; Juan, Manel; Cordova, Wilmer; Alsina, Laia.

J Clin Immunol; 38(6): 712-716, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-30039354

20.

Administration of interleukin-7 increases CD4 T cells in idiopathic CD4 lymphocytopenia.

Sheikh, Virginia; Porter, Brian O; DerSimonian, Rebecca; Kovacs, Stephen B; Thompson, William L; Perez-Diez, Ainhoa; Freeman, Alexandra F; Roby, Gregg; Mican, JoAnn; Pau, Alice; Rupert, Adam; Adelsberger, Joseph; Higgins, Jeanette; Bourgeois, Jeffrey S; Jensen, Stig M R; Morcock, David R; Burbelo, Peter D; Osnos, Leah; Maric, Irina; Natarajan, Ven; Croughs, Therese; Yao, Michael D; Estes, Jacob D; Sereti, Irini.

Blood; 127(8): 977-88, 2016 Feb 25.

Artículo en Inglés | MEDLINE | ID: mdl-26675348

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