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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, Velas… See abstract for full author list ➔ Leiding JW, et al. 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.
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Bier J, et al. J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6. J Allergy Clin Immunol. 2019. PMID: 30738173 Free PMC article.
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production.
Lau A, Avery DT, Jackson K, Lenthall H, Volpi S, Brigden H, Russell AJ, Bier J, Reed JH, Smart JM, Cole T, Choo S, Gray PE, Berglund LJ, Hsu P, Wong M, O'Sullivan M, Boztug K, Meyts I, Uzel G, Notarangelo LD, Brink R, Goodnow CC, Tangye SG, Deenick EK. Lau A, et al. J Exp Med. 2020 Feb 3;217(2):e20191336. doi: 10.1084/jem.20191336. J Exp Med. 2020. PMID: 31841125 Free PMC article.
Long-term, open-label extension study of the efficacy and safety of epicutaneous immunotherapy for peanut allergy in children: PEOPLE 3-year results.
Fleischer DM, Shreffler WG, Campbell DE, Green TD, Anvari S, Assa'ad A, Bégin P, Beyer K, Bird JA, Brown-Whitehorn T, Byrne A, Chan ES, Cheema A, Chinthrajah S, Chong HJ, Davis CM, Ford LS, Gagnon R, Greenhawt M, Hourihane JO, Jones SM, Kim EH, Lange L, Lanser BJ, Leonard S, Mahler V, Maronna A, Nowak-Wegrzyn A, Oriel RC, O'Sullivan M, Petroni D, Pongracic JA, Prescott SL, Schneider LC, Smith P, Staab D, Sussman G, Wood R, Yang WH, Lambert R, Peillon A, Bois T, Sampson HA. Fleischer DM, et al. J Allergy Clin Immunol. 2020 Oct;146(4):863-874. doi: 10.1016/j.jaci.2020.06.028. Epub 2020 Jul 10. J Allergy Clin Immunol. 2020. PMID: 32659313 Free article. Clinical Trial.
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.
Kermode W, De Santis D, Truong L, Della Mina E, Salman S, Thompson G, Nolan D, Loh R, Mallon D, Mclean-Tooke A, John M, Tangye SG, O'Sullivan M, D'Orsogna LJ. Kermode W, et al. J Mol Diagn. 2022 Jun;24(6):586-599. doi: 10.1016/j.jmoldx.2022.02.007. Epub 2022 May 12. J Mol Diagn. 2022. PMID: 35570134 Free article.
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Masle-Farquhar E, Jackson KJL, Peters TJ, Al-Eryani G, Singh M, Payne KJ, Rao G, Avery DT, Apps G, Kingham J, Jara CJ, Skvortsova K, Swarbrick A, Ma CS, Suan D, Uzel G, Chua I, Leiding JW, Heiskanen K, Preece K, Kainulainen L, O'Sullivan M, Cooper MA, Seppänen MRJ, Mustjoki S, Brothers S, Vogel TP, Brink R, Tangye SG, Reed JH, Goodnow CC. Masle-Farquhar E, et al. Immunity. 2022 Dec 13;55(12):2386-2404.e8. doi: 10.1016/j.immuni.2022.11.001. Epub 2022 Nov 28. Immunity. 2022. PMID: 36446385 Free article.
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.
Mina ED, Jackson KJL, Crawford AJI, Faulks ML, Pathmanandavel K, Acquarola N, O'Sullivan M, Kerre T, Naesens L, Claes K, Goodnow CC, Haerynck F, Kracker S, Meyts I, D'Orsogna LJ, Ma CS, Tangye SG. Mina ED, et al. J Clin Immunol. 2024 Feb 16;44(3):66. doi: 10.1007/s10875-024-01665-1. J Clin Immunol. 2024. PMID: 38363477 Free PMC article.
The 10 warning signs: a time for a change?
OʼSullivan MD, Cant AJ. OʼSullivan MD, et al. Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):588-94. doi: 10.1097/ACI.0b013e3283591534. Curr Opin Allergy Clin Immunol. 2012. PMID: 23026771 Review.
The Implications of DNA Methylation on Food Allergy.
Lee KH, Song Y, O'Sullivan M, Pereira G, Loh R, Zhang GB. Lee KH, et al. Int Arch Allergy Immunol. 2017;173(4):183-192. doi: 10.1159/000479513. Epub 2017 Aug 29. Int Arch Allergy Immunol. 2017. PMID: 28848217 Review.
1,914 results