Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Robert A. Sokolic"'
Autor:
Robert A. Sokolic, Michael H. Albert, Sumathi Iyengar, Morton J. Cowan, Ami J. Shah, Ziyan Yin, Brent R. Logan, Christopher Scalchunes, Christina Mangurian
Publikováno v:
Journal of clinical immunology, vol 39, iss 8
J Clin Immunol
J Clin Immunol
BackgroundWe undertook a study to determine the impact of Wiskott Aldrich Syndrome (WAS) and X-linked thrombocytopenia (XLT) and their therapies upon the health-related quality of life (HRQOL) of patients and their families.Materials and methodsWe un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dd9400421de0d3b662a59f66cdf699a
https://doi.org/10.1007/s10875-019-00689-2
https://doi.org/10.1007/s10875-019-00689-2
Autor:
Sally Shupien, Aoife M. Roche, Dayna Terrazas, Augustine Fernandes, Satiro N. De Oliveira, Eline T. Luning Prak, Jack Mottahedeh, Omar Habib, Xiaoyan Wang, Shantan Reddy, Wenzhao Meng, Theodore B. Moore, Pascha Hokama, Michael S. Hershfield, Suk See De Ravin, Connie Jackson, Beatriz Campo Fernandez, Andrej Vitomirov, Kenneth Cornetta, Denise A. Carbonaro-Sarracino, Kit L. Shaw, Robert A. Sokolic, Elizabeth Garabedian, Harry L. Malech, Barbara C. Engel, Alan K. Ikeda, Aaron M. Rosenfeld, Gregory M. Podsakoff, Bryanna Reinhardt, Donald B. Kohn, Fabio Candotti, Frederic D. Bushman, John K. Everett, Alejandra Davila, Suparna Mishra, Roger P. Hollis
Publikováno v:
Blood
Patients lacking functional adenosine deaminase activity have severe combined immunodeficiency (ADA SCID), which can be treated with ADA enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT), or autologous HSCT w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb34b0c6a6fdfaf418692ef5a41e734
https://pubmed.ncbi.nlm.nih.gov/34647983
https://pubmed.ncbi.nlm.nih.gov/34647983
Autor:
Matteo Pellegrini, Denise A. Carbonaro-Sarracino, Robert A. Sokolic, Aaron R. Cooper, Donald B. Kohn, Alejandra Davila, Fabio Candotti, Kit L. Shaw, Georgia R. Lill
Publikováno v:
Blood. 129:2624-2635
Retroviral gene therapy has proved efficacious for multiple genetic diseases of the hematopoietic system, but roughly half of clinical gene therapy trial protocols using gammaretroviral vectors have reported leukemias in some of the patients treated.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ddaa21f44c4bd12abb16ef09eac6f7
https://doi.org/10.1182/blood-2016-12-756734
https://doi.org/10.1182/blood-2016-12-756734
Autor:
James C. Mullikin, Peter D. Stenson, Fabio Candotti, Wadih M. Zein, Jamila S. Wynter, Steven Gonsalves, Jennifer J. Johnston, Benjamin D. Solomon, Heidi H. Kong, Robert A. Sokolic, Katie L. Lewis, Suzanne Hart, Brian P. Brooks, Isaac Brownell, Carmen C. Brewer, David Neil Cooper, Larry N. Singh, Leslie G. Biesecker, David Ng, Kristina I. Rother
Publikováno v:
The American Journal of Human Genetics. 96:913-925
Next-generation sequencing provides the opportunity to practice predictive medicine based on identified variants. Putative loss-of-function (pLOF) variants are common in genomes and understanding their contribution to disease is critical for predicti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86853cacd1a3ff9c131a15c41d2fab50
https://doi.org/10.1016/j.ajhg.2015.04.013
https://doi.org/10.1016/j.ajhg.2015.04.013
Autor:
Donald B. Kohn, Kit L. Shaw, Elizabeth Garabedian, Denise Ann Carbonaro-Sarracino, Theodore B. Moore, Satiro N. De Oliveira, Gay M. Crooks, John Tse, Sally Shupien, Dayna Terrazas, Alejandra Davila, Amalia Icreverzi, Allen Yu, Krista M. Chun, Christian E. Casas, Provaboti Barman, Maritess Coronel, Beatriz Campo Fernandez, Ruixue Zhang, Roger P. Hollis, Chilenwa Uzowuru, Hilory Ricketts, Jinhua Xu Bayford, Valentina Trevisan, Serena Arduini, Frances Lynn, Mahesh Kudari, Andrea Spezzi, Lilith Reeves, Kenneth Cornetta, Robert A. Sokolic, Roberta Parrott, Rebecca Buckley, Claire Booth, Fabio Candotti, Harry L. Malech, Adrian J. Thrasher, H. Bobby Gaspar
Publikováno v:
Blood. 134:3345-3345
Background: Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is a rare disorder caused by ADA gene mutations, leading to lymphotoxic build-up of purine metabolites and profound immunodeficiency. Historically, enzyme r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22a9f018d10bc165f3940826b9e244c9
https://doi.org/10.1182/blood-2019-123432
https://doi.org/10.1182/blood-2019-123432
Autor:
Morgan Park, Fabio Candotti, Julia A. Segre, Julia Oh, Nisc Comparative Sequencing Program, Heidi H. Kong, Alexandra F. Freeman, Robert A. Sokolic, Steven M. Holland
Publikováno v:
Genome Research. 23:2103-2114
Although the relationships between microbiota, host, and disease are complex, investigators have long relied upon Koch's postulates to impute causation between microorganism and disease. However, the requirement that disease-causing microorganisms un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3afb9d3fe30aa5c4be0c131dfe8873
https://doi.org/10.1101/gr.159467.113
https://doi.org/10.1101/gr.159467.113
Autor:
Nan-ping Weng, Elizabeth Garabedian, Irini Sereti, Evert van Dijk, Lauren K. Yokomizo, Fabio Candotti, Virginia Sheikh, John S. Barber, Robert A. Sokolic, Joshua D. Milner, Alexandra F. Freeman
Publikováno v:
Proceedings of the National Academy of Sciences. 110:8164-8169
The ability of T-cells to respond to foreign antigens and to appropriately regulate this response is crucial for maintaining immune homeostasis. Using combinatorial peptide libraries, we functionally measured broad T-cell reactivity and observed impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3579d41478a8de3be6c6bc59343940
https://doi.org/10.1073/pnas.1302103110
https://doi.org/10.1073/pnas.1302103110
Autor:
Michael Young, Fabio Candotti, Donald B. Kohn, Michael S. Hershfield, Robert A. Sokolic, Hirsh D. Komarow, Dean D. Metcalfe
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 159
Orphanet journal of rare diseases, vol 10, iss 1
Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 159
Orphanet journal of rare diseases, vol 10, iss 1
Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd65efd35314d4d36017ee6d22108f9f
https://doi.org/10.1186/s13023-015-0365-z
https://doi.org/10.1186/s13023-015-0365-z
Publikováno v:
Blood. 132:4931-4931
Sickle cell disease is a genetic blood disorder with significant morbidity and mortality. This disease is characterized by vaso-occlusive pain crisis and end-organ damage, ultimately contributing to poor quality of life and reduced life expectancy. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58f964b8708ad1ca1288a020c3f7eeff
https://doi.org/10.1182/blood-2018-99-120138
https://doi.org/10.1182/blood-2018-99-120138
Publikováno v:
Current Opinion in Hematology. 15:375-380
To discuss new data on the safety and efficacy of the ongoing gene therapy trials for primary immune deficiencies, the first reports of new trials and the preclinical developments that are likely to be translated to the clinic in the near future.Both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13287997171868ce71ce97660522bf56
https://doi.org/10.1097/moh.0b013e328302c807
https://doi.org/10.1097/moh.0b013e328302c807