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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: carisey a. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR. Vargas-Hernández A, et al. Among authors: carisey af. J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27. J Allergy Clin Immunol. 2018. PMID: 29111217 Free PMC article.
Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.
Vargas-Hernández A, Witalisz-Siepracka A, Prchal-Murphy M, Klein K, Mahapatra S, Al-Herz W, Mace EM, Carisey AF, Orange JS, Sexl V, Forbes LR. Vargas-Hernández A, et al. Among authors: carisey af. J Allergy Clin Immunol. 2020 Jan;145(1):345-357.e9. doi: 10.1016/j.jaci.2019.09.016. Epub 2019 Oct 7. J Allergy Clin Immunol. 2020. PMID: 31600547 Free PMC article.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Poli MC, et al. Among authors: carisey af. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805043 Free PMC article.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Among authors: carisey af. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. Lam MT, et al. Among authors: carisey af. J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10. J Exp Med. 2019. PMID: 31601675 Free PMC article.
33 results