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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: cook mc. 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.
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans.
Avery DT, Deenick EK, Ma CS, Suryani S, Simpson N, Chew GY, Chan TD, Palendira U, Bustamante J, Boisson-Dupuis S, Choo S, Bleasel KE, Peake J, King C, French MA, Engelhard D, Al-Hajjar S, Al-Muhsen S, Magdorf K, Roesler J, Arkwright PD, Hissaria P, Riminton DS, Wong M, Brink R, Fulcher DA, Casanova JL, Cook MC, Tangye SG. Avery DT, et al. Among authors: cook mc. J Exp Med. 2010 Jan 18;207(1):155-71. doi: 10.1084/jem.20091706. Epub 2010 Jan 4. J Exp Med. 2010. PMID: 20048285 Free PMC article.
IL-27 supports germinal center function by enhancing IL-21 production and the function of T follicular helper cells.
Batten M, Ramamoorthi N, Kljavin NM, Ma CS, Cox JH, Dengler HS, Danilenko DM, Caplazi P, Wong M, Fulcher DA, Cook MC, King C, Tangye SG, de Sauvage FJ, Ghilardi N. Batten M, et al. Among authors: cook mc. J Exp Med. 2010 Dec 20;207(13):2895-906. doi: 10.1084/jem.20100064. Epub 2010 Nov 22. J Exp Med. 2010. PMID: 21098093 Free PMC article.
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, Arkwright PD, Kreins AY, Averbuch D, Engelhard D, Magdorf K, Kilic SS, Minegishi Y, Nonoyama S, French MA, Choo S, Smart JM, Peake J, Wong M, Gray P, Cook MC, Fulcher DA, Casanova JL, Deenick EK, Tangye SG. Ma CS, et al. Among authors: cook mc. Blood. 2012 Apr 26;119(17):3997-4008. doi: 10.1182/blood-2011-11-392985. Epub 2012 Mar 8. Blood. 2012. PMID: 22403255 Free PMC article.
Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22).
Chew GY, Sinha U, Gatenby PA, DeMalmanche T, Adelstein S, Garsia R, Hissaria P, French MA, Wilson A, Whittle B, Kirkpatrick P, Riminton DS, Fulcher DA, Cook MC. Chew GY, et al. Among authors: cook mc. J Allergy Clin Immunol. 2013 Apr;131(4):1130-5, 1135.e1. doi: 10.1016/j.jaci.2012.06.023. Epub 2012 Jul 31. J Allergy Clin Immunol. 2013. PMID: 22857794
152 results