Pesquisa | Biblioteca Virtual em Saúde

1.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

Bosticardo, Marita; Yamazaki, Yasuhiro; Cowan, Jennifer; Giardino, Giuliana; Corsino, Cristina; Scalia, Giulia; Prencipe, Rosaria; Ruffner, Melanie; Hill, David A; Sakovich, Inga; Yemialyanava, Irma; Tam, Jonathan S; Padem, Nurcicek; Elder, Melissa E; Sleasman, John W; Perez, Elena; Niebur, Hana; Seroogy, Christine M; Sharapova, Svetlana; Gebbia, Jennifer; Kleiner, Gary Ira; Peake, Jane; Abbott, Jordan K; Gelfand, Erwin W; Crestani, Elena; Biggs, Catherine; Butte, Manish J; Hartog, Nicholas; Hayward, Anthony; Chen, Karin; Heimall, Jennifer; Seeborg, Filiz; Bartnikas, Lisa M; Cooper, Megan A; Pignata, Claudio; Bhandoola, Avinash; Notarangelo, Luigi D.

Am J Hum Genet; 105(3): 549-561, 2019 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-31447097

2.

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).

Abbott, Jordan K; Huoh, Yu-San; Reynolds, Paul R; Yu, Liping; Rewers, Marian; Reddy, Monica; Anderson, Mark S; Hur, Sun; Gelfand, Erwin W.

J Autoimmun; 88: 114-120, 2018 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-29129473

3.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

de la Morena, M Teresa; Leonard, David; Torgerson, Troy R; Cabral-Marques, Otavio; Slatter, Mary; Aghamohammadi, Asghar; Chandra, Sharat; Murguia-Favela, Luis; Bonilla, Francisco A; Kanariou, Maria; Damrongwatanasuk, Rongras; Kuo, Caroline Y; Dvorak, Christopher C; Meyts, Isabelle; Chen, Karin; Kobrynski, Lisa; Kapoor, Neena; Richter, Darko; DiGiovanni, Daniela; Dhalla, Fatima; Farmaki, Evangelia; Speckmann, Carsten; Español, Teresa; Shcherbina, Anna; Hanson, Imelda Celine; Litzman, Jiri; Routes, John M; Wong, Melanie; Fuleihan, Ramsay; Seneviratne, Suranjith L; Small, Trudy N; Janda, Ales; Bezrodnik, Liliana; Seger, Reinhard; Raccio, Andrea Gomez; Edgar, J David M; Chou, Janet; Abbott, Jordan K; van Montfrans, Joris; González-Granado, Luis Ignacio; Bunin, Nancy; Kutukculer, Necil; Gray, Paul; Seminario, Gisela; Pasic, Srdjan; Aquino, Victor; Wysocki, Christian; Abolhassani, Hassan; Dorsey, Morna; Cunningham-Rundles, Charlotte.

J Allergy Clin Immunol; 139(4): 1282-1292, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-27697500

4.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan, Antonia; Abraham, Roshini S; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E; Bonilla, Francisco A; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A; Comeau, Anne Marie; Connelly, James A; Cowan, Morton J; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W; Hale, Jaime E; Hanson, I Celine; Hay, Beverly N; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M; Kohn, Donald B; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B; Naides, Stanley J; Notarangelo, Luigi D; Orange, Jordan S; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray.

JAMA; 312(7): 729-38, 2014 Aug 20.

Artigo em Inglês | MEDLINE | ID: mdl-25138334

5.

Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency.

Sabry, Angela; Hauk, Pia J; Jing, Huie; Su, Helen C; Stence, Nicholas V; Mirsky, David M; Nagel, Maria A; Abbott, Jordan K; Dragone, Leonard L; Armstrong-Wells, Jennifer; Curtis, Donna J; Cohrs, Randall; Schmid, D Scott; Gilden, Don; Gelfand, Erwin W.

J Allergy Clin Immunol; 133(4): 1225-1227, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24418481

6.

Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.

Abbott, Jordan K; Ochs, Hans D; Gelfand, Erwin W.

J Allergy Clin Immunol; 132(5): 1246-8, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-24001798

7.

Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge.

Mohiuddin, Maaz S; Abbott, Jordan K; Hubbard, Nicholas; Torgerson, Troy R; Ochs, Hans D; Gelfand, Erwin W.

J Allergy Clin Immunol; 131(6): 1717-8, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-23726535

8.

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Maffucci, Patrick; Chavez, Jose; Jurkiw, Thomas J; O'Brien, Patrick J; Abbott, Jordan K; Reynolds, Paul R; Worth, Austen; Notarangelo, Luigi D; Felgentreff, Kerstin; Cortes, Patricia; Boisson, Bertrand; Radigan, Lin; Cobat, Aurélie; Dinakar, Chitra; Ehlayel, Mohammad; Ben-Omran, Tawfeg; Gelfand, Erwin W; Casanova, Jean-Laurent; Cunningham-Rundles, Charlotte.

J Clin Invest; 128(12): 5489-5504, 2018 Dec 03.

Artigo em Inglês | MEDLINE | ID: mdl-30395541

9.

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn, Ian T; Jing, Huie; Zhang, Yu; Drutman, Scott B; Abbott, Jordan K; Munir, Shirin; Bade, Sangeeta; Murdock, Heardley M; Santos, Celia P; Brock, Linda G; Masutani, Evan; Fordjour, Emmanuel Y; McElwee, Joshua J; Hughes, Jason D; Nichols, Dave P; Belkadi, Aziz; Oler, Andrew J; Happel, Corinne S; Matthews, Helen F; Abel, Laurent; Collins, Peter L; Subbarao, Kanta; Gelfand, Erwin W; Ciancanelli, Michael J; Casanova, Jean-Laurent; Su, Helen C.

J Exp Med; 214(7): 1949-1972, 2017 Jul 03.

Artigo em Inglês | MEDLINE | ID: mdl-28606988

10.

Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma, Chi A; Stinson, Jeffrey R; Zhang, Yuan; Abbott, Jordan K; Weinreich, Michael A; Hauk, Pia J; Reynolds, Paul R; Lyons, Jonathan J; Nelson, Celeste G; Ruffo, Elisa; Dorjbal, Batsukh; Glauzy, Salomé; Yamakawa, Natsuko; Arjunaraja, Swadhinya; Voss, Kelsey; Stoddard, Jennifer; Niemela, Julie; Zhang, Yu; Rosenzweig, Sergio D; McElwee, Joshua J; DiMaggio, Thomas; Matthews, Helen F; Jones, Nina; Stone, Kelly D; Palma, Alejandro; Oleastro, Matías; Prieto, Emma; Bernasconi, Andrea R; Dubra, Geronimo; Danielian, Silvia; Zaiat, Jonathan; Marti, Marcelo A; Kim, Brian; Cooper, Megan A; Romberg, Neil; Meffre, Eric; Gelfand, Erwin W; Snow, Andrew L; Milner, Joshua D.

Nat Genet; 49(8): 1192-1201, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28628108

11.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma, Chi A; Stinson, Jeffrey R; Zhang, Yuan; Abbott, Jordan K; Weinreich, Michael A; Hauk, Pia J; Reynolds, Paul R; Lyons, Jonathan J; Nelson, Celeste G; Ruffo, Elisa; Dorjbal, Batsukh; Glauzy, Salomé; Yamakawa, Natsuko; Arjunaraja, Swadhinya; Voss, Kelsey; Stoddard, Jennifer; Niemela, Julie; Zhang, Yu; Rosenzweig, Sergio D; McElwee, Joshua J; DiMaggio, Thomas; Matthews, Helen F; Jones, Nina; Stone, Kelly D; Palma, Alejandro; Oleastro, Matías; Prieto, Emma; Bernasconi, Andrea R; Dubra, Geronimo; Danielian, Silvia; Zaiat, Jonathan; Marti, Marcelo A; Kim, Brian; Cooper, Megan A; Romberg, Neil D; Meffre, Eric; Gelfand, Erwin W; Snow, Andrew L; Milner, Joshua D.

Nat Genet; 49(11): 1661, 2017 Oct 27.

Artigo em Inglês | MEDLINE | ID: mdl-29074947

12.

Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.

Abbott, Jordan K; Gelfand, Erwin W.

Immunol Allergy Clin North Am; 35(4): 637-58, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26454311

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