Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Susan J. Kelly"'
Publikováno v:
Expert Opinion on Orphan Drugs. 9:257-264
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::535b11ccc98c2e6d67463de003080bb3
https://doi.org/10.1080/21678707.2021.2050367
https://doi.org/10.1080/21678707.2021.2050367
Autor:
Sharon A. Chung, Christian Pagnoux, Antoine G. Sreih, Natalia Sampaio Moura, Nisc Comparative Sequencing Program, Simon Carette, Lindsy J. Forbess, Peter C. Grayson, Paul A. Monach, Monique Stoffels, Peter A. Merkel, Steven R. Ytterberg, Nader Khalidi, Karyl S. Barron, Kenneth J. Warrington, Carol A. McAlear, Philip Seo, Jason M. Springer, Elaine F. Remmers, Daniel L. Kastner, Patrycja Hoffmann, Susan J. Kelly, Curry L. Koening, Larry W. Moreland, Amanda K. Ombrello, Ivona Aksentijevich, Carol A. Langford, David Cuthbertson, Michael S. Hershfield, Oskar Schnappauf
Publikováno v:
Arthritis Rheumatol
OBJECTIVE. Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of vasculitis that can resemble polyarteritis nodosa (PAN). This study was undertaken to identify potential disease-causing sequence variants in ADA2 in patients with idiopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12aa2973f4be6396590695428838bbe1
https://doi.org/10.1002/art.41549
https://doi.org/10.1002/art.41549
Autor:
Sigune Goldacker, Jessica Rojas Restrepo, Michele Proietti, Vassilios Lougaris, Johanna Schepp, Ignacio Uriarte, Mary Buchta, Jana Pachlopnik Schmid, Katrin Hübscher, Andrea Duppenthaler, Klaus Warnatz, Michael S. Hershfield, Bodo Grimbacher, Susan J. Kelly, Natalie Frede
Publikováno v:
Arthritis & Rheumatology. 69:1689-1700
Objective: We aimed to test the relevance of Deficiency of Adenosine Deaminase 2 in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. Methods: We screened for DADA2 in a cohort of 181 patients with antib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8769254659f4dc96f935db0357c7b827
https://doi.org/10.1002/art.40147
https://doi.org/10.1002/art.40147
Autor:
Sherry L. Sheldon, Karyl S. Barron, Tina Romeo, Camilo Toro, Willy A. Flegel, Deborah L. Stone, Jing Qin, Daniel L. Kastner, Patrycja Hoffmann, Anne Jones, Susan J. Kelly, Natalie Deuitch, Qing Zhou, Ada Man, Parag Kumar, Gineth Pinto-Patarroyo, Ariane Soldatos, Amanda K. Ombrello, Ivona Aksentijevich, Beverly K. Barham, Michael S. Hershfield
Publikováno v:
N Engl J Med
Adenosine Deaminase 2 Deficiency and TNF Inhibition The manifestations of a deficiency of adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of 15 patients wi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285344296dd682a52f7877e642c760ae
https://pubmed.ncbi.nlm.nih.gov/30995379
https://pubmed.ncbi.nlm.nih.gov/30995379
Autor:
Michael S. Hershfield, Yackov Berkun, Tal Ben-Ami, Orly Elpeleg, Michael Weintraub, Polina Stepensky, Shoshana Revel-Vilk, Susan J. Kelly, Nancy J. Ganson, Rebecca Brooks, Shlomit Kfir-Erenfeld, Avraham Shaag
Publikováno v:
The Journal of Pediatrics. 177:316-320
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6bed58e4bfc26ded4c1acfba683608
https://doi.org/10.1016/j.jpeds.2016.06.058
https://doi.org/10.1016/j.jpeds.2016.06.058
Autor:
Hongzhi Cao, Alla Bulashevska, Fang Yang, Bodo Grimbacher, Maximilian Seidl, Michael S. Hershfield, Wilma Mannhardt-Laakmann, Johanna Schepp, Susan J. Kelly
Publikováno v:
Journal of Clinical Immunology. 36:179-186
Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child. Whole Exome Sequencing (WES) was performed in the index family. WES
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b695fdaab7b9c76f76e9f3da1b07ccd
https://doi.org/10.1007/s10875-016-0245-x
https://doi.org/10.1007/s10875-016-0245-x
Publikováno v:
Current rheumatology reports. 19(11)
A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e83e5d59d321bcd5413cf2ce114f14f7
https://pubmed.ncbi.nlm.nih.gov/28983775
https://pubmed.ncbi.nlm.nih.gov/28983775
Autor:
Katherine R. Calvo, Bradford B. Worrall, Patrycja Hoffmann, David E. Kleiner, Wanxia L. Tsai, Andrey Zavialov, Raman Sood, Alisa Gotte, Susan J. Kelly, Shawn M. Burgess, Stephen S. Rich, Hye Sun Kuehn, Thomas A. Fleisher, Martha Quezado, Amanda K. Ombrello, Sophie Hambleton, Michael S. Hershfield, Anne Jones, Dan Yang, John S. Barber, Camilo Toro, Manfred Boehm, Chyi-Chia Richard Lee, Ivona Aksentijevich, Omer Karadag, Karyl S. Barron, James C. Mullikin, Geryl Wood, Elizabeth Chalom, David T. Chin, Edward W. Cowen, Deborah L. Stone, Susan Moir, Troy R. Torgerson, Anton V. Zavialov, Virginia Pascual, Wuhong Pei, Jae Jin Chae, Nora G. Singer, Alexander Ling, Mario Abinun, Fabio Candotti, Scott E. Kasner, Elaine F. Remmers, Seza Ozen, Daniel L. Kastner, Raphaela Goldbach-Mansky, Nancy J. Ganson, Theo Heller, Marilynn Punaro, James W. Verbsky, Nicholas J. Patronas, Hawwa Alao, Christopher Silvin, Beverly K. Barham, Timothy R. Gershon, Kevin Bishop, Heidi H. Kong, Alejandra Negro, Sergio D. Rosenzweig, James F. Meschia, Massimo Gadina, Joshua D. Milner, Qing Zhou
Publikováno v:
New England Journal of Medicine. 370:911-920
BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause becaus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6675df8a4b1d93af13859fa77c23d4
https://doi.org/10.1056/nejmoa1307361
https://doi.org/10.1056/nejmoa1307361
Autor:
Jacqueline Boultwood, Ling Mei Wang, Jacqueline Madden, Susan J. Kelly, James S. Wainscoat, David Oscier, Katrina Rack, Veronica J. Buckle, Alan Y. Sakaguchi
A high proportion of patients with myelodysplasia show characteristic karyotypic abnormalities in bone marrow cells. The most distinctive of the myelodysplastic syndromes is the 5q- syndrome characterized by refractory anemia, poorly lobulated megaka
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2c0e2e8bb3bc0e2d841214a02a2de1
https://ora.ox.ac.uk/objects/uuid:b2a1d90a-a432-42f4-a915-309f3b37332f
https://ora.ox.ac.uk/objects/uuid:b2a1d90a-a432-42f4-a915-309f3b37332f
Autor:
Susan J. Kelly, Anna E. Denoble, Michael S. Hershfield, Virginia B. Kraus, R. Edward Coleman, Kim M. Huffman, Thomas Stabler, G. McDaniel
Publikováno v:
Proceedings of the National Academy of Sciences. 108:2088-2093
Uric acid (UA) is known to activate the NLRP3 (Nacht, leucine-rich repeat and pyrin domain containing protein 3) inflammasome. When activated, the NLRP3 (also known as NALP3) inflammasome leads to the production of IL-18 and IL-1β. In this cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59741a59dcfb0bb5f83019f5579a9343
https://doi.org/10.1073/pnas.1012743108
https://doi.org/10.1073/pnas.1012743108