Zobrazeno 1 - 10 of 149 pro vyhledávání: '"Trudy N, Small"'
1
Akademický článek
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Autor: Adam G W Matthews, Christine E Briggs, Keiichi Yamanaka, Trudy N Small, Jana L Mooster, Francisco A Bonilla, Marjorie A Oettinger, Manish J Butte
Publikováno v: PLoS ONE, Vol 10, Iss 4, p e0121489 (2015)
Omenn syndrome is a primary immunodeficiency disorder, featuring susceptibility to infections and autoreactive T cells and resulting from defective genomic rearrangement of genes for the T cell and B cell receptors. The most frequent etiologies are h
Externí odkaz: https://doaj.org/article/e1ffde0e4f2e44db9b5eb5986ea137b8
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2
Akademický článek
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Autor: Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini
Publikováno v: PLoS Genetics, Vol 9, Iss 8, p e1003695 (2013)
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome
Externí odkaz: https://doaj.org/article/8227b26c0dbc4b9aa78d97185bee92cb
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3
SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery
Autor: Harry L. Malech, Roberta E. Parrott, Evan Shereck, Kenneth B. DeSantes, Troy C. Quigg, Thomas A. Fleisher, Alfred P. Gillio, Rebecca H. Buckley, Richard J. O'Reilly, Sung-Yun Pai, Luigi D. Notarangelo, Victor M. Aquino, Morton J. Cowan, Jeffrey J. Bednarski, Jennifer M. Puck, Donald B. Kohn, David C. Shyr, Soma Jyonouchi, Imelda C. Hanson, Pierre Teira, Matthew H. Porteus, Angela R. Smith, Paul Szabolcs, Candace Taylor, Jeffrey H. Davis, Mark Vander Lugt, Jack J. Bleesing, Morris Kletzel, Hélène Decaluwe, Megan Murnane, Christine M. Seroogy, Trudy N. Small, James A. Connelly, Audrey G. Tumlin, Sharat Chandra, Matthew E. Cavanaugh, Kathleen E. Sullivan, Ann E. Haight, Aleksandra Petrovic, Linda M. Griffith, Neena Kapoor, Brent R. Logan, John Craddock, Susan E. Prockop, Michael A. Pulsipher, Michael D. Keller, Geoffrey D.E. Cuvelier, Caridad Martinez, Jessica Chaisson, Frederick D. Goldman, Alan P. Knutsen, Monica S. Thakar, Lolie C. Yu, Ziyan Yin, Lauri Burroughs, William T. Shearer, Hisham Abdel-Azim, Jennifer W. Leiding, Jennifer Heimall, Elie Haddad, Christopher C. Dvorak, Theodore B. Moore, Blachy J. Dávila Saldaña, Elizabeth M. Kang, Suzanne Skoda-Smith
Publikováno v: Blood. 132:1737-1749
The Primary Immune Deficiency Treatment Consortium (PIDTC) performed a retrospective analysis of 662 patients with severe combined immunodeficiency (SCID) who received a hematopoietic cell transplantation (HCT) as first-line treatment between 1982 an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77d6ef98c53eabc748b1041f481c507e
https://doi.org/10.1182/blood-2018-03-840702
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5
Frequent Human Herpesvirus-6 Viremia But Low Incidence of Encephalitis in Double-Unit Cord Blood Recipients Transplanted Without Antithymocyte Globulin
Autor: Marissa Lubin, Parastoo B. Dahi, Andromachi Scaradavou, Nancy A. Kernan, Juliet N. Barker, Amanda L. Olson, Junting Zheng, Richard J. O'Reilly, Esperanza B. Papadopoulos, Anne Marie Gonzales, Trudy N. Small, Sean M. Devlin, James W. Young, Genovefa A. Papanicolaou, Miguel-Angel Perales, Doris M. Ponce, Sergio Giralt
Publikováno v: Biology of Blood and Marrow Transplantation. 20:787-793
Cord blood transplantation (CBT) is a known risk factor for human herpesvirus-6 (HHV-6) infection. We analyzed the nature of HHV-6 infections in 125 double-unit CBT recipients (median age 42 years) transplanted for hematologic malignancies with calci
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605e6788224b52cc7d1d9e8a67485dae
https://doi.org/10.1016/j.bbmt.2014.02.010
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6
Ten-year follow-up of pediatric patients with non-hodgkin lymphoma treated with allogeneic or autologous stem cell transplantation
Autor: Rosanna Ricafort, Lisa Giulino-Roth, Richard J. O'Reilly, Andromachi Scaradavou, Tanya M. Trippett, Peter G. Steinherz, Michelle Chiu, Susan E. Prockop, Trudy N. Small, Nancy A. Kernan, Farid Boulad
Publikováno v: Pediatric Blood & Cancer. 60:2018-2024
Background Autologous or allogeneic hematopoietic stem cell transplant (SCT) is often considered in patients with relapsed or refractory non-Hodgkin lymphoma (NHL) but there are limited data on the use of SCT for the treatment of NHL in the pediatric
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::390f4574d949285d314e815da5697c43
https://doi.org/10.1002/pbc.24722
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9
Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation
Autor: Isabelle Meyts, Christopher C. Dvorak, Morna J. Dorsey, Antonio Condino-Neto, Hassan Abolhassani, Rongras Damrongwatanasuk, Reinhard Seger, John M. Routes, Trudy N. Small, Hans D. Ochs, Maria Kanariou, Carsten Speckmann, Beatriz Tavares Costa Carvalho, J. David M. Edgar, Luis Ignacio Gonzalez-Granado, Andrew R. Gennery, Victor M. Aquino, M. Teresa de la Morena, Ramsay Fuleihan, Gisela Seminario, Nancy Bunin, Neena Kapoor, Chaim M. Roifman, Alan P. Knutsen, Helen Chapel, Jiri Litzman, Lisa Kobrynski, Liliana Bezrodnik, Anna Shcherbina, Teresa Espanol, Paul Gray, Francisco A. Bonilla, Janet Chou, Andrew J. Cant, Imelda C. Hanson, Luis Murguia-Favela, Troy R. Torgerson, Christian A. Wysocki, Fatima Dhalla, Mary Slatter, Eyal Grunebaum, Andrea C. Gómez Raccio, Necil Kutukculer, Jordan K. Abbott, David Leonard, Evangelia Farmaki, Joris M. van Montfrans, Srdjan Pasic, Sharat Chandra, Ales Janda, Luigi D. Notarangelo, Melanie Wong, Otavio Cabral-Marques, M.J. Cowan, Caroline Y. Kuo, Alexandra H. Filipovich, Asghar Aghamohammadi, John W. Sleasman, Darko Richter, Karin Chen, Suranjith L. Seneviratne, Charlotte Cunningham-Rundles, Daniela DiGiovanni
Publikováno v: The Journal of allergy and clinical immunology, vol 139, iss 4
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Allergy and Clinical Immunology, 139(4), 1282. Mosby Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
WOS: 000398771800023
PubMed ID: 27697500
Background: X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9332ffae746e556d7530bfa4b4ec3a6
https://ora.ox.ac.uk/objects/uuid:d6d75a9e-d449-4450-a6c7-97227d89d44a
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10
Alternative donor SCT for the treatment of MHC Class II deficiency
Autor: Paul Veys, J.J. Bleesing, A Scurlock, W. Friedrich, Trudy N. Small, M Sparber-Sauer, Robert Chiesa, Waseem Qasim
Publikováno v: Bone Marrow Transplantation. 48:226-232
MHC Class II deficiency is a rare primary immunodeficiency disease characterized by absent HLA Class II expression resulting in CD4 lymphopenia, lack of Ag-specific responses and recurrent infection. Without successful allogeneic SCT, most children s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea92c1c9652a92640425a301e4fe3e20
https://doi.org/10.1038/bmt.2012.140
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