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Page 1
Anakinra-Associated Systemic Amyloidosis.
Alehashemi S, Dasari S, Metpally A, Uss K, Castelo-Soccio LA, Heller T, Kellman P, Chen MY, Ahlman M, Kim J, Wargo S, Kuhns DB, Fink D, de Jesus A, Martin PS, Chang R, Bolanos J, Lee CR, Nasr SH, Goldbach-Mansky R, McPhail E. Alehashemi S, et al. Among authors: kuhns db. Arthritis Rheumatol. 2024 Jan;76(1):100-106. doi: 10.1002/art.42664. Epub 2023 Nov 29. Arthritis Rheumatol. 2024. PMID: 37488949
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM. McDermott DH, et al. Among authors: kuhns db. J Clin Invest. 2023 Oct 2;133(19):e164918. doi: 10.1172/JCI164918. J Clin Invest. 2023. PMID: 37561579 Free PMC article. Clinical Trial.
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: kuhns db. 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.
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD. Nunes-Santos CJ, et al. Among authors: kuhns db. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R. de Jesus AA, et al. Among authors: kuhns db. Nat Commun. 2023 Mar 17;14(1):1502. doi: 10.1038/s41467-023-36941-y. Nat Commun. 2023. PMID: 36932076 Free PMC article.
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: kuhns db. 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
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Drummond RA, Desai JV, Hsu AP, Oikonomou V, Vinh DC, Acklin JA, Abers MS, Walkiewicz MA, Anzick SL, Swamydas M, Vautier S, Natarajan M, Oler AJ, Yamanaka D, Mayer-Barber KD, Iwakura Y, Bianchi D, Driscoll B, Hauck K, Kline A, Viall NS, Zerbe CS, Ferré EM, Schmitt MM, DiMaggio T, Pittaluga S, Butman JA, Zelazny AM, Shea YR, Arias CA, Ashbaugh C, Mahmood M, Temesgen Z, Theofiles AG, Nigo M, Moudgal V, Bloch KC, Kelly SG, Whitworth MS, Rao G, Whitener CJ, Mafi N, Gea-Banacloche J, Kenyon LC, Miller WR, Boggian K, Gilbert A, Sincock M, Freeman AF, Bennett JE, Hasbun R, Mikelis CM, Kwon-Chung KJ, Belkaid Y, Brown GD, Lim JK, Kuhns DB, Holland SM, Lionakis MS. Drummond RA, et al. Among authors: kuhns db. J Clin Invest. 2022 Nov 15;132(22):e159348. doi: 10.1172/JCI159348. J Clin Invest. 2022. PMID: 36377664 Free PMC article.
Immunogenetics associated with severe coccidioidomycosis.
Hsu AP, Korzeniowska A, Aguilar CC, Gu J, Karlins E, Oler AJ, Chen G, Reynoso GV, Davis J, Chaput A, Peng T, Sun L, Lack JB, Bays DJ, Stewart ER, Waldman SE, Powell DA, Donovan FM, Desai JV, Pouladi N, Long Priel DA, Yamanaka D, Rosenzweig SD, Niemela JE, Stoddard J, Freeman AF, Zerbe CS, Kuhns DB, Lussier YA, Olivier KN, Boucher RC, Hickman HD, Frelinger J, Fierer J, Shubitz LF, Leto TL, Thompson GR 3rd, Galgiani JN, Lionakis MS, Holland SM. Hsu AP, et al. Among authors: kuhns db. JCI Insight. 2022 Nov 22;7(22):e159491. doi: 10.1172/jci.insight.159491. JCI Insight. 2022. PMID: 36166305 Free PMC article.
120 results