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Page 1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: calvo kr. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Eltrombopag and improved hematopoiesis in refractory aplastic anemia.
Olnes MJ, Scheinberg P, Calvo KR, Desmond R, Tang Y, Dumitriu B, Parikh AR, Soto S, Biancotto A, Feng X, Lozier J, Wu CO, Young NS, Dunbar CE. Olnes MJ, et al. Among authors: calvo kr. N Engl J Med. 2012 Jul 5;367(1):11-9. doi: 10.1056/NEJMoa1200931. N Engl J Med. 2012. PMID: 22762314 Free PMC article. Clinical Trial.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: calvo kr. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Ganapathi KA, Townsley DM, Hsu AP, Arthur DC, Zerbe CS, Cuellar-Rodriguez J, Hickstein DD, Rosenzweig SD, Braylan RC, Young NS, Holland SM, Calvo KR. Ganapathi KA, et al. Among authors: calvo kr. Blood. 2015 Jan 1;125(1):56-70. doi: 10.1182/blood-2014-06-580340. Epub 2014 Oct 30. Blood. 2015. PMID: 25359990 Free PMC article.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD. Kuehn HS, et al. Among authors: calvo kr. N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234. N Engl J Med. 2016. PMID: 26981933 Free PMC article.
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.
Dulau Florea AE, Braylan RC, Schafernak KT, Williams KW, Daub J, Goyal RK, Puck JM, Rao VK, Pittaluga S, Holland SM, Uzel G, Calvo KR. Dulau Florea AE, et al. Among authors: calvo kr. J Allergy Clin Immunol. 2017 Mar;139(3):1032-1035.e6. doi: 10.1016/j.jaci.2016.08.028. Epub 2016 Sep 30. J Allergy Clin Immunol. 2017. PMID: 27697496 Free PMC article.
Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia.
Townsley DM, Scheinberg P, Winkler T, Desmond R, Dumitriu B, Rios O, Weinstein B, Valdez J, Lotter J, Feng X, Desierto M, Leuva H, Bevans M, Wu C, Larochelle A, Calvo KR, Dunbar CE, Young NS. Townsley DM, et al. Among authors: calvo kr. N Engl J Med. 2017 Apr 20;376(16):1540-1550. doi: 10.1056/NEJMoa1613878. N Engl J Med. 2017. PMID: 28423296 Free PMC article. Clinical Trial.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Giannelou A, et al. Among authors: calvo kr. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22. Ann Rheum Dis. 2018. PMID: 29358286 Free PMC article.
154 results