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A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
Desjardins M, Arjunaraja S, Stinson JR, Dorjbal B, Sundaresan J, Niemela J, Raffeld M, Matthews HF, Wang A, Angelus P, Su HC, Mazer BD, Snow AL. Desjardins M, et al. Among authors: stinson jr. Front Immunol. 2018 Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018. Front Immunol. 2018. PMID: 30619304 Free PMC article.
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
Snow AL, Xiao W, Stinson JR, Lu W, Chaigne-Delalande B, Zheng L, Pittaluga S, Matthews HF, Schmitz R, Jhavar S, Kuchen S, Kardava L, Wang W, Lamborn IT, Jing H, Raffeld M, Moir S, Fleisher TA, Staudt LM, Su HC, Lenardo MJ. Snow AL, et al. Among authors: stinson jr. J Exp Med. 2012 Nov 19;209(12):2247-61. doi: 10.1084/jem.20120831. Epub 2012 Nov 5. J Exp Med. 2012. PMID: 23129749 Free PMC article.
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.
Brohl AS, Stinson JR, Su HC, Badgett T, Jennings CD, Sukumar G, Sindiri S, Wang W, Kardava L, Moir S, Dalgard CL, Moscow JA, Khan J, Snow AL. Brohl AS, et al. Among authors: stinson jr. J Clin Immunol. 2015 Jan;35(1):32-46. doi: 10.1007/s10875-014-0106-4. Epub 2014 Oct 29. J Clin Immunol. 2015. PMID: 25352053 Free PMC article.
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.
Buchbinder D, Stinson JR, Nugent DJ, Heurtier L, Suarez F, Sukumar G, Dalgard CL, Masson C, Parisot M, Zhang Y, Matthews HF, Su HC, Durandy A, Fischer A, Kracker S, Snow AL. Buchbinder D, et al. Among authors: stinson jr. J Allergy Clin Immunol. 2015 Sep;136(3):819-821.e1. doi: 10.1016/j.jaci.2015.03.008. Epub 2015 Apr 28. J Allergy Clin Immunol. 2015. PMID: 25930198 Free PMC article.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: stinson jr. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Dorjbal B, et al. Among authors: stinson jr. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.
Multiplexed Functional Assessment of Genetic Variants in CARD11.
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Meitlis I, et al. Among authors: stinson jr. Am J Hum Genet. 2020 Dec 3;107(6):1029-1043. doi: 10.1016/j.ajhg.2020.10.015. Epub 2020 Nov 16. Am J Hum Genet. 2020. PMID: 33202260 Free PMC article.
32 results