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Page 1
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: jing h. 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.
Combined immunodeficiency associated with DOCK8 mutations.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Zhang Q, et al. Among authors: jing h. N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23. N Engl J Med. 2009. PMID: 19776401 Free PMC article.
Cutaneous manifestations of DOCK8 deficiency syndrome.
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, Holland SM, Turner ML. Chu EY, et al. Among authors: jing h. Arch Dermatol. 2012 Jan;148(1):79-84. doi: 10.1001/archdermatol.2011.262. Epub 2011 Sep 19. Arch Dermatol. 2012. PMID: 21931011 Free PMC article.
DOCK8 deficiency.
Su HC, Jing H, Zhang Q. Su HC, et al. Among authors: jing h. Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Ann N Y Acad Sci. 2011. PMID: 22236427 Review.
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC. Sanal O, et al. Among authors: jing h. J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4. J Clin Immunol. 2012. PMID: 22476911 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: jing h. 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.
Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency.
Sabry A, Hauk PJ, Jing H, Su HC, Stence NV, Mirsky DM, Nagel MA, Abbott JK, Dragone LL, Armstrong-Wells J, Curtis DJ, Cohrs R, Schmid DS, Gilden D, Gelfand EW. Sabry A, et al. Among authors: jing h. J Allergy Clin Immunol. 2014 Apr;133(4):1225-1227. doi: 10.1016/j.jaci.2013.11.031. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418481 Free PMC article. No abstract available.
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. 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.
DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.
Zhang Q, Dove CG, Hor JL, Murdock HM, Strauss-Albee DM, Garcia JA, Mandl JN, Grodick RA, Jing H, Chandler-Brown DB, Lenardo TE, Crawford G, Matthews HF, Freeman AF, Cornall RJ, Germain RN, Mueller SN, Su HC. Zhang Q, et al. Among authors: jing h. J Exp Med. 2014 Dec 15;211(13):2549-66. doi: 10.1084/jem.20141307. Epub 2014 Nov 24. J Exp Med. 2014. PMID: 25422492 Free PMC article.
Dual proteolytic pathways govern glycolysis and immune competence.
Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, Zhang Q, Griffin H, Sanderson S, Lakey JH, Morgan NV, Reynard LN, Zheng L, Murdock HM, Turvey SE, Hackett SJ, Prestidge T, Hall JM, Cant AJ, Matthews HF, Koref MF, Simon AK, Korolchuk VI, Lenardo MJ, Hambleton S, Su HC. Lu W, et al. Among authors: jing h. Cell. 2014 Dec 18;159(7):1578-90. doi: 10.1016/j.cell.2014.12.001. Cell. 2014. PMID: 25525876 Free PMC article.
2,293 results