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Page 1
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Stasia MJ, Bakri FG, Köker N, Köker MY, Madkaika M, de Boer M, Garcia-Morato MB, Shephard JLV, Roesler J, Kanegane H, Kawai T, Di Matteo G, Shahrooei M, Bustamante J, Rawat A, Vignesh P, Mortaz E, Fayezi A, Cagdas D, Tezcan I, Kitcharoensakkul M, Dinauer MC, Meyts I, Wolach B, Condino-Neto A, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: priel dl. Blood Cells Mol Dis. 2021 Sep;90:102587. doi: 10.1016/j.bcmd.2021.102587. Epub 2021 Jun 2. Blood Cells Mol Dis. 2021. PMID: 34175765 Review.
B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.
Matharu K, Zarember KA, Marciano BE, Kuhns DB, Spalding C, Garofalo M, Dimaggio T, Estwick T, Huang CY, Fink D, Priel DL, Fleisher TA, Holland SM, Malech HL, Gallin JI. Matharu K, et al. Among authors: priel dl. Clin Immunol. 2013 Aug;148(2):258-64. doi: 10.1016/j.clim.2013.05.007. Epub 2013 May 22. Clin Immunol. 2013. PMID: 23773925 Free PMC article.
An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.
Merling RK, Sweeney CL, Chu J, Bodansky A, Choi U, Priel DL, Kuhns DB, Wang H, Vasilevsky S, De Ravin SS, Winkler T, Dunbar CE, Zou J, Zarember KA, Gallin JI, Holland SM, Malech HL. Merling RK, et al. Among authors: priel dl. Mol Ther. 2015 Jan;23(1):147-57. doi: 10.1038/mt.2014.195. Epub 2014 Oct 7. Mol Ther. 2015. PMID: 25288370 Free PMC article.
Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.
Kuhns DB, Fink DL, Choi U, Sweeney C, Lau K, Priel DL, Riva D, Mendez L, Uzel G, Freeman AF, Olivier KN, Anderson VL, Currens R, Mackley V, Kang A, Al-Adeli M, Mace E, Orange JS, Kang E, Lockett SJ, Chen D, Steinbach PJ, Hsu AP, Zarember KA, Malech HL, Gallin JI, Holland SM. Kuhns DB, et al. Among authors: priel dl. Blood. 2016 Oct 27;128(17):2135-2143. doi: 10.1182/blood-2016-03-706028. Epub 2016 Aug 24. Blood. 2016. PMID: 27557945 Free PMC article.
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: priel dl. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651
Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies.
Zendt M, Bustos Carrillo FA, Kelly S, Saturday T, DeGrange M, Ginigeme A, Wu L, Callier V, Ortega-Villa A, Faust M, Chang-Rabley E, Bugal K, Kenney H, Khil P, Youn JH, Osei G, Regmi P, Anderson V, Bosticardo M, Daub J, DiMaggio T, Kreuzburg S, Pala F, Pfister J, Treat J, Ulrick J, Karkanitsa M, Kalish H, Kuhns DB, Priel DL, Fink DL, Tsang JS, Sparks R, Uzel G, Waldman MA, Zerbe CS, Delmonte OM, Bergerson JRE, Das S, Freeman AF, Lionakis MS, Sadtler K, van Doremalen N, Munster V, Notarangelo LD, Holland SM, Ricotta EE. Zendt M, et al. Among authors: priel dl. Sci Adv. 2023 Oct 13;9(41):eadh3150. doi: 10.1126/sciadv.adh3150. Epub 2023 Oct 12. Sci Adv. 2023. PMID: 37824621 Free PMC article.
Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification.
Sen SK, Boelte KC, Barb JJ, Joehanes R, Zhao X, Cheng Q, Adams L, Teer JK, Accame DS, Chowdhury S, Singh LN; NISC Comparative Sequencing Program; CHARGE Consortium; Kavousi M, Peyser PA, Quigley L, Priel DL, Lau K, Kuhns DB, Yoshimura T, Johnson AD, Hwang SJ, Chen MY, Arai AE, Green ED, Mullikin JC, Kolodgie FD, O'Donnell CJ, Virmani R, Munson PJ, McVicar DW, Biesecker LG. Sen SK, et al. Among authors: priel dl. Am J Hum Genet. 2014 Jul 3;95(1):66-76. doi: 10.1016/j.ajhg.2014.06.003. Epub 2014 Jun 26. Am J Hum Genet. 2014. PMID: 24975946 Free PMC article.