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Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: holland sm. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.
Schlums H, Jung M, Han H, Theorell J, Bigley V, Chiang SC, Allan DS, Davidson-Moncada JK, Dickinson RE, Holmes TD, Hsu AP, Townsley D, Winkler T, Wang W, Aukrust P, Nordøy I, Calvo KR, Holland SM, Collin M, Dunbar CE, Bryceson YT. Schlums H, et al. Among authors: holland sm. Blood. 2017 Apr 6;129(14):1927-1939. doi: 10.1182/blood-2016-08-734236. Epub 2017 Feb 16. Blood. 2017. PMID: 28209719 Free PMC article.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: holland sm. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
Generalized verrucosis in a patient with GATA2 deficiency.
West ES, Kingsbery MY, Mintz EM, Hsu AP, Holland SM, Rady PL, Tyring SK, Grossman ME. West ES, et al. Among authors: holland sm. Br J Dermatol. 2014 May;170(5):1182-6. doi: 10.1111/bjd.12794. Br J Dermatol. 2014. PMID: 24359037
BTK drives neutrophil activation for sterilizing antifungal immunity.
Desai JV, Zarakas MA, Wishart AL, Roschewski M, Aufiero MA, Donkó Á, Wigerblad G, Shlezinger N, Plate M, James MR, Lim JK, Uzel G, Bergerson JR, Fuss I, Cramer RA, Franco LM, Clark ES, Khan WN, Yamanaka D, Chamilos G, El-Benna J, Kaplan MJ, Staudt LM, Leto TL, Holland SM, Wilson WH, Hohl TM, Lionakis MS. Desai JV, et al. Among authors: holland sm. J Clin Invest. 2024 May 2:e176142. doi: 10.1172/JCI176142. Online ahead of print. J Clin Invest. 2024. PMID: 38696257 Free article.
Host-microbe multiomic profiling reveals age-dependent immune dysregulation associated with COVID-19 immunopathology.
Phan HV, Tsitsiklis A, Maguire CP, Haddad EK, Becker PM, Kim-Schulze S, Lee B, Chen J, Hoch A, Pickering H, van Zalm P, Altman MC, Augustine AD, Calfee CS, Bosinger S, Cairns CB, Eckalbar W, Guan L, Jayavelu ND, Kleinstein SH, Krammer F, Maecker HT, Ozonoff A, Peters B, Rouphael N; IMPACC Network; Montgomery RR, Reed E, Schaenman J, Steen H, Levy O, Diray-Arce J, Langelier CR. Phan HV, et al. Sci Transl Med. 2024 Apr 17;16(743):eadj5154. doi: 10.1126/scitranslmed.adj5154. Epub 2024 Apr 17. Sci Transl Med. 2024. PMID: 38630846
Case Report: Profound newborn leukopenia related to a novel RAC2 variant.
Hall G, Donkó Á, Pratt C, Kim-Chang JJ, Martin PL, Stallings AP, Sleasman JW, Holland SM, Hsu AP, Leto TL, Mousallem T. Hall G, et al. Among authors: holland sm. Front Pediatr. 2024 Mar 7;12:1365187. doi: 10.3389/fped.2024.1365187. eCollection 2024. Front Pediatr. 2024. PMID: 38516355 Free PMC article.
767 results