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Page 1
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. PMID: 36993430 Free PMC article. Preprint.
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
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.
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 RN, Alcedo Andrade PE, Nghiem K, Ferrada MA, Hines A, Quinn KA, Panicker SR, Ombrello AK, Reichard KK, Darden I, Goodspeed W, Durrani J, Wilson L, Olteanu H, Lasho TL, Kastner DL, Warrington KJ, Mangaonkar AA, Go RS, Braylan RC, Beck DB, Patnaik MM, Young NS, Calvo KR, Casanegra A, Grayson PC, Koster MJ, Wu CO, Kanthi Y, Patel BA, Houghton DE, Groarke EM. Kusne Y, et al. Among authors: kastner dl. Blood. 2024 Feb 2:blood.2023022329. doi: 10.1182/blood.2023022329. Online ahead of print. Blood. 2024. PMID: 38306657
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: kastner dl. Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12. Nat Immunol. 2024. PMID: 38609546
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. bioRxiv [Preprint]. 2024 Mar 19:2024.03.18.585578. doi: 10.1101/2024.03.18.585578. bioRxiv. 2024. PMID: 38562807 Free PMC article. Preprint.
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W, Stone DL, Hoffmann P, Rosenzweig S, Tsai WL, Gadina M, Romeo T, Lee CR, Randazzo D, Pimpale Chavan P, Manthiram K, Canna S, Park YH, Ombrello AK, Aksentijevich I, Kastner DL, Chae JJ. Lee W, et al. Among authors: kastner dl. Ann Rheum Dis. 2024 Feb 26:ard-2023-225085. doi: 10.1136/ard-2023-225085. Online ahead of print. Ann Rheum Dis. 2024. PMID: 38408849 Free article.
Autoinflammatory syndromes: Updates in management.
Blackstone SA, Kastner DL, Broderick L. Blackstone SA, et al. Among authors: kastner dl. J Allergy Clin Immunol. 2024 Jan;153(1):85-89. doi: 10.1016/j.jaci.2023.11.001. Epub 2023 Nov 4. J Allergy Clin Immunol. 2024. PMID: 37926121 No abstract available.
253 results