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Page 1
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: su hc. 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.
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: su hc. 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.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. Among authors: su hc. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
Jing H, Zhang Q, Zhang Y, Hill BJ, Dove CG, Gelfand EW, Atkinson TP, Uzel G, Matthews HF, Mustillo PJ, Lewis DB, Kavadas FD, Hanson IC, Kumar AR, Geha RS, Douek DC, Holland SM, Freeman AF, Su HC. Jing H, et al. Among authors: su hc. J Allergy Clin Immunol. 2014 Jun;133(6):1667-75. doi: 10.1016/j.jaci.2014.03.025. Epub 2014 May 3. J Allergy Clin Immunol. 2014. PMID: 24797421 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: su hc. 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.
Recent Advances in DOCK8 Immunodeficiency Syndrome.
Zhang Q, Jing H, Su HC. Zhang Q, et al. Among authors: su hc. J Clin Immunol. 2016 Jul;36(5):441-9. doi: 10.1007/s10875-016-0296-z. Epub 2016 May 20. J Clin Immunol. 2016. PMID: 27207373 Free PMC article. Review.
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: su hc. Front Immunol. 2018 Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018. Front Immunol. 2018. PMID: 30619304 Free PMC article.
397 results