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Year Number of Results
2012 2
2013 1
2014 3
2015 2
2016 1
2017 2
2018 3
2019 7
2020 3
2021 1
2022 4
2023 2
2024 0

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24 results

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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: vargas hernandez 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.
STAT5b: A master regulator of key biological pathways.
Smith MR, Satter LRF, Vargas-Hernández A. Smith MR, et al. Among authors: vargas hernandez a. Front Immunol. 2023 Jan 23;13:1025373. doi: 10.3389/fimmu.2022.1025373. eCollection 2022. Front Immunol. 2023. PMID: 36755813 Free PMC article. Review.
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: vargas hernandez a. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
Phenotypic and Functional Plasticity of CXCR6+ Peripheral Blood NK Cells.
Angelo LS, Hogg GD, Abeynaike S, Bimler L, Vargas-Hernandez A, Paust S. Angelo LS, et al. Among authors: vargas hernandez a. Front Immunol. 2022 Jan 31;12:810080. doi: 10.3389/fimmu.2021.810080. eCollection 2021. Front Immunol. 2022. PMID: 35173710 Free PMC article.
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.
Hartono SP, Vargas-Hernández A, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LR. Hartono SP, et al. Among authors: vargas hernandez a. J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13. J Clin Immunol. 2018. PMID: 30317461 No abstract available.
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
Pelham SJ, Caldirola MS, Avery DT, Mackie J, Rao G, Gothe F, Peters TJ, Guerin A, Neumann D, Vokurkova D, Hwa V, Zhang W, Lyu SC, Chang I, Manohar M, Nadeau KC, Gaillard MI, Bezrodnik L, Iotova V, Zwirner NW, Gutierrez M, Al-Herz W, Goodnow CC, Vargas-Hernández A, Forbes Satter LR, Hambleton S, Deenick EK, Ma CS, Tangye SG. Pelham SJ, et al. Among authors: vargas hernandez a. J Allergy Clin Immunol. 2022 Oct;150(4):931-946. doi: 10.1016/j.jaci.2022.04.011. Epub 2022 Apr 22. J Allergy Clin Immunol. 2022. PMID: 35469842
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E. Kuhny M, et al. Among authors: vargas hernandez a. J Clin Invest. 2020 Aug 3;130(8):4411-4422. doi: 10.1172/JCI131297. J Clin Invest. 2020. PMID: 32484799 Free PMC article.
24 results