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9,261 results

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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.
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G. Kuehn HS, et al. Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11. Science. 2014. PMID: 25213377 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: su hc. 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.
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.
Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
Tangye SG, Pillay B, Randall KL, Avery DT, Phan TG, Gray P, Ziegler JB, Smart JM, Peake J, Arkwright PD, Hambleton S, Orange J, Goodnow CC, Uzel G, Casanova JL, Lugo Reyes SO, Freeman AF, Su HC, Ma CS. Tangye SG, et al. J Allergy Clin Immunol. 2017 Mar;139(3):933-949. doi: 10.1016/j.jaci.2016.07.016. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554822 Free PMC article.
Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency.
Freeman AF, Shah NN, Parta M, Su HC, Brofferio A, Gradus-Pizlo I, Butty S, Hughes TE, Kleiner DE, Avila D, Heller T, Kong HH, Holland SM, Hickstein DD. Freeman AF, et al. Among authors: su hc. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1239-1242.e1. doi: 10.1016/j.jaip.2016.06.028. Epub 2016 Sep 15. J Allergy Clin Immunol Pract. 2016. PMID: 27641484 Free PMC article. No abstract available.
9,261 results