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Page 1
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, Linton GF, Anderson SM, Kirby MR, Oliveira JB, Brown MR, Fleisher TA, Law SK, Holland SM. Uzel G, et al. Blood. 2008 Jan 1;111(1):209-18. doi: 10.1182/blood-2007-04-082552. Epub 2007 Sep 17. Blood. 2008. PMID: 17875809 Free PMC article.
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY, Gopalan V, Aksentijevich I, Yeager M, Ma CA, Mohamoud YA, Quinones M, Matthews C, Boland J, Niemela JE, Torgerson TR, Giliani S, Uzel G, Orange JS, Shapiro R, Notarangelo L, Ochs HD, Fleisher T, Kastner D, Chanock SJ, Jain A. Wang HY, et al. Among authors: uzel g. Hum Mutat. 2010 Sep;31(9):1080-8. doi: 10.1002/humu.21322. Hum Mutat. 2010. PMID: 20652909 Free PMC article.
CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome.
Fan X, Upadhyaya B, Wu L, Koh C, Santín-Durán M, Pittaluga S, Uzel G, Kleiner D, Williams E, Ma CA, Bodansky A, Oliveira JB, Edmonds P, Hornung R, Wong DW, Fayer R, Fleisher T, Heller T, Prussin C, Jain A. Fan X, et al. Among authors: uzel g. Clin Immunol. 2012 May;143(2):152-61. doi: 10.1016/j.clim.2012.01.014. Epub 2012 Feb 7. Clin Immunol. 2012. PMID: 22459705 Free PMC article. Clinical Trial.
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.
Chaigne-Delalande B, Li FY, O'Connor GM, Lukacs MJ, Jiang P, Zheng L, Shatzer A, Biancalana M, Pittaluga S, Matthews HF, Jancel TJ, Bleesing JJ, Marsh RA, Kuijpers TW, Nichols KE, Lucas CL, Nagpal S, Mehmet H, Su HC, Cohen JI, Uzel G, Lenardo MJ. Chaigne-Delalande B, et al. Among authors: uzel g. Science. 2013 Jul 12;341(6142):186-91. doi: 10.1126/science.1240094. Science. 2013. PMID: 23846901 Free PMC article.
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G. Lucas CL, et al. Among authors: uzel g. Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28. Nat Immunol. 2014. PMID: 24165795 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. Among authors: uzel g. Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11. Science. 2014. PMID: 25213377 Free PMC article.
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS. Ferre EM, et al. Among authors: uzel g. JCI Insight. 2016 Aug 18;1(13):e88782. doi: 10.1172/jci.insight.88782. JCI Insight. 2016. PMID: 27588307 Free PMC article.
175 results