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Page 1
Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects.
Panackal AA, Rosen LB, Uzel G, Davis MJ, Hu G, Adeyemo A, Tekola-Ayele F, Lisco A, Diachok C, Kim JD, Shaw D, Sereti I, Stoddard J, Niemela J, Rosenzweig SD, Bennett JE, Williamson PR. Panackal AA, et al. Among authors: uzel g. Open Forum Infect Dis. 2017 Jun 7;4(2):ofx082. doi: 10.1093/ofid/ofx082. eCollection 2017 Spring. Open Forum Infect Dis. 2017. PMID: 28638843 Free PMC article.
Fever and leg pain in a 42-month-old.
Waibel KH, Regis DP, Uzel G, Rosenzweig SD, Holland SM. Waibel KH, et al. Among authors: uzel g. Ann Allergy Asthma Immunol. 2002 Sep;89(3):239-43. doi: 10.1016/S1081-1206(10)61949-7. Ann Allergy Asthma Immunol. 2002. PMID: 12269642 No abstract available.
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.
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Sampaio EP, et al. Among authors: uzel g. J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28. J Allergy Clin Immunol. 2013. PMID: 23541320 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.
177 results