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124 results

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Page 1
Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Ham H, et al. Among authors: kuhns db. Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20. Science. 2024. PMID: 39298586
Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus.
Nieto-Patlán A, Fernández Dávila NS, Wang Y, Zelnick M, Muscal E, Curry M, Lupski JR, Holland SM, Yuan B, Kuhns DB, Vogel TP, Chinn IK. Nieto-Patlán A, et al. Among authors: kuhns db. Front Pediatr. 2024 Aug 20;12:1425874. doi: 10.3389/fped.2024.1425874. eCollection 2024. Front Pediatr. 2024. PMID: 39228435 Free PMC article.
Longitudinal analysis of the lung proteome reveals persistent repair months after mild to moderate COVID-19.
Kanth SM, Huapaya JA, Gairhe S, Wang H, Tian X, Demirkale CY, Hou C, Ma J, Kuhns DB, Fink DL, Malayeri A, Turkbey E, Harmon SA, Chen MY, Regenold D, Lynch NF, Ramelli S, Li W, Krack J, Kuruppu J, Lionakis MS, Strich JR, Davey R, Childs R, Chertow DS, Kovacs JA, Parizi PT, Suffredini AF; COVID-ARC Study Group. Kanth SM, et al. Among authors: kuhns db. Cell Rep Med. 2024 Jul 16;5(7):101642. doi: 10.1016/j.xcrm.2024.101642. Epub 2024 Jul 8. Cell Rep Med. 2024. PMID: 38981485 Free PMC article.
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.
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.
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
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.
124 results