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Page 1
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. Lee PY, et al. Among authors: kastner dl. JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894. JAMA Netw Open. 2023. PMID: 37256629 Free article. Review.
Multiomics integration of 22 immune-mediated monogenic diseases reveals an emergent axis of human immune health.
Sparks R, Rachmaninoff N, Hirsch DC, Bansal N, Lau WW, Martins AJ, Chen J, Liu CC, Cheung F, Failla LE, Biancotto A, Fantoni G, Sellers BA, Chawla DG, Howe KN, Mostaghimi D, Farmer R, Kotliarov Y, Calvo KR, Palmer C, Daub J, Foruraghi L, Kreuzburg S, Treat J, Urban AK, Jones A, Romeo T, Deuitch NT, Moura NS, Weinstein B, Moir S, Ferrucci L, Barron KS, Aksentijevich I, Kleinstein SH, Townsley DM, Young NS, Frischmeyer-Guerrerio PA, Uzel G, Pinto-Patarroyo GP, Cudrici CD, Hoffmann P, Stone DL, Ombrello AK, Freeman AF, Zerbe CS, Kastner DL, Holland SM, Tsang JS. Sparks R, et al. Among authors: kastner dl. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2070975. doi: 10.21203/rs.3.rs-2070975/v1. Res Sq. 2023. Update in: Nat Med. 2024 Sep;30(9):2461-2472. doi: 10.1038/s41591-024-03092-6. PMID: 36993430 Free PMC article. Updated. Preprint.
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS. Wu Z, et al. Among authors: kastner dl. Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160. Cell Rep Med. 2023. PMID: 37586319 Free PMC article.
Venous and arterial thrombosis in patients with VEXAS syndrome.
Kusne Y, Ghorbanzadeh A, Dulau-Florea A, Shalhoub R, Alcedo PE, Nghiem K, Ferrada MA, Hines A, Quinn KA, Panicker SR, Ombrello AK, Reichard K, Darden I, Goodspeed W, Durrani J, Wilson L, Olteanu H, Lasho T, Kastner DL, Warrington KJ, Mangaonkar A, Go RS, Braylan RC, Beck DB, Patnaik MM, Young NS, Calvo KR, Casanegra AI, Grayson PC, Koster MJ, Wu CO, Kanthi Y, Patel BA, Houghton DE, Groarke EM. Kusne Y, et al. Among authors: kastner dl. Blood. 2024 May 23;143(21):2190-2200. doi: 10.1182/blood.2023022329. Blood. 2024. PMID: 38306657
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Correia Marques M, Rubin D, Shuldiner EG, Datta M, Schmitz E, Gutierrez Cruz G, Patt A, Bennett E, Grom A, Foell D, Gattorno M, Bohnsack J, Yeung RSM, Prahalad S, Mellins E, Anton J, Len CA, Oliveira S, Woo P, Ozen S, Deng Z, Ombrello MJ; INCHARGE Consortium. Correia Marques M, et al. Arthritis Rheumatol. 2024 Jun 27. doi: 10.1002/art.42938. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 38937141
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM. Gutierrez-Rodrigues F, et al. Among authors: kastner dl. Blood. 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. Blood. 2023. PMID: 37084382 Free PMC article.
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.
Blanton LV, San Roman AK, Wood G, Buscetta A, Banks N, Skaletsky H, Godfrey AK, Pham TT, Hughes JF, Brown LG, Kruszka P, Lin AE, Kastner DL, Muenke M, Page DC. Blanton LV, et al. Among authors: kastner dl. Cell Genom. 2024 Sep 11;4(9):100628. doi: 10.1016/j.xgen.2024.100628. Epub 2024 Aug 6. Cell Genom. 2024. PMID: 39111319 Free article.
Racial variability in immune responses only partially explains differential systemic sclerosis disease severity.
Kuchinad KE, Kim JS, Woods A, Leatherman G, Gutierrez-Alamillo L, Mayes MD, Domsic R, Ramos PS, Silver RM, Varga J, Saketkoo LA, Kafaja S, Shanmugan VK, Gordon J, Chung L, Bernstein EJ, Gourh P, Boin F, Kastner DL, Zeger SL, Casciola-Rosen L, Wigley FM, Shah AA. Kuchinad KE, et al. Among authors: kastner dl. Ann Rheum Dis. 2024 Jul 17:ard-2023-225458. doi: 10.1136/ard-2023-225458. Online ahead of print. Ann Rheum Dis. 2024. PMID: 39019570
A unified metric of human immune health.
Sparks R, Rachmaninoff N, Lau WW, Hirsch DC, Bansal N, Martins AJ, Chen J, Liu CC, Cheung F, Failla LE, Biancotto A, Fantoni G, Sellers BA, Chawla DG, Howe KN, Mostaghimi D, Farmer R, Kotliarov Y, Calvo KR, Palmer C, Daub J, Foruraghi L, Kreuzburg S, Treat JD, Urban AK, Jones A, Romeo T, Deuitch NT, Moura NS, Weinstein B, Moir S, Ferrucci L, Barron KS, Aksentijevich I, Kleinstein SH, Townsley DM, Young NS, Frischmeyer-Guerrerio PA, Uzel G, Pinto-Patarroyo GP, Cudrici CD, Hoffmann P, Stone DL, Ombrello AK, Freeman AF, Zerbe CS, Kastner DL, Holland SM, Tsang JS. Sparks R, et al. Among authors: kastner dl. Nat Med. 2024 Sep;30(9):2461-2472. doi: 10.1038/s41591-024-03092-6. Epub 2024 Jul 3. Nat Med. 2024. PMID: 38961223
257 results