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Page 1
Hyper-IgE syndrome update.
Sowerwine KJ, Holland SM, Freeman AF. Sowerwine KJ, et al. Ann N Y Acad Sci. 2012 Feb;1250:25-32. doi: 10.1111/j.1749-6632.2011.06387.x. Epub 2012 Jan 23. Ann N Y Acad Sci. 2012. PMID: 22268731 Free PMC article. Review.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
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. 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.
Invasive aspergillosis due to Neosartorya udagawae.
Vinh DC, Shea YR, Sugui JA, Parrilla-Castellar ER, Freeman AF, Campbell JW, Pittaluga S, Jones PA, Zelazny A, Kleiner D, Kwon-Chung KJ, Holland SM. Vinh DC, et al. Clin Infect Dis. 2009 Jul 1;49(1):102-11. doi: 10.1086/599345. Clin Infect Dis. 2009. PMID: 19489714 Free PMC article.
Distinct mutations at the same positions of STAT3 cause either loss or gain of function.
Chandrasekaran P, Zimmerman O, Paulson M, Sampaio EP, Freeman AF, Sowerwine KJ, Hurt D, Alcántara-Montiel JC, Hsu AP, Holland SM. Chandrasekaran P, et al. J Allergy Clin Immunol. 2016 Oct;138(4):1222-1224.e2. doi: 10.1016/j.jaci.2016.05.007. Epub 2016 May 24. J Allergy Clin Immunol. 2016. PMID: 27345172 Free PMC article. No abstract available.
14 results