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Page 1
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: hanson ic. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.
Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Krance RA, Paul ME, Abramson SL, Noroski LM, Davis CM, Seeborg FO, Foster SB, Leung KS, Brown BS, Ritz J, Shearer WT. Patel NC, et al. Among authors: hanson ic. J Allergy Clin Immunol. 2009 Nov;124(5):1062-9.e1-4. doi: 10.1016/j.jaci.2009.08.041. J Allergy Clin Immunol. 2009. PMID: 19895994 Free PMC article.
Early versus delayed diagnosis of SCID: triumph versus tragedy.
Nicholas S, Krance RA, Hanson IC, Chinen J, Mamlok RJ, Roifman CM, Shearer WT. Nicholas S, et al. Among authors: hanson ic. Clin Immunol. 2011 Jun;139(3):360-2. doi: 10.1016/j.clim.2011.03.010. Epub 2011 Apr 14. Clin Immunol. 2011. PMID: 21497138 No abstract available.
Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease.
Martinez CA, Shah S, Shearer WT, Rosenblatt HM, Paul ME, Chinen J, Leung KS, Kennedy-Nasser A, Brenner MK, Heslop HE, Liu H, Wu MF, Hanson IC, Krance RA. Martinez CA, et al. Among authors: hanson ic. J Allergy Clin Immunol. 2012 Jan;129(1):176-83. doi: 10.1016/j.jaci.2011.10.005. Epub 2011 Nov 12. J Allergy Clin Immunol. 2012. PMID: 22078471 Free PMC article.
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
Mizesko MC, Banerjee PP, Monaco-Shawver L, Mace EM, Bernal WE, Sawalle-Belohradsky J, Belohradsky BH, Heinz V, Freeman AF, Sullivan KE, Holland SM, Torgerson TR, Al-Herz W, Chou J, Hanson IC, Albert MH, Geha RS, Renner ED, Orange JS. Mizesko MC, et al. Among authors: hanson ic. J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4. J Allergy Clin Immunol. 2013. PMID: 23380217 Free PMC article.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. Griffith LM, et al. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139498 Free PMC article.
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Bayer DK, et al. Among authors: hanson ic. Clin Exp Immunol. 2014 Dec;178(3):459-69. doi: 10.1111/cei.12421. Clin Exp Immunol. 2014. PMID: 25046553 Free PMC article.
Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency.
Kamili QUA, Seeborg FO, Saxena K, Nicholas SK, Banerjee PP, Angelo LS, Mace EM, Forbes LR, Martinez C, Wright TS, Orange JS, Hanson IC. Kamili QUA, et al. Among authors: hanson ic. J Allergy Clin Immunol. 2014 Dec;134(6):1451-1453.e1. doi: 10.1016/j.jaci.2014.07.009. Epub 2014 Aug 23. J Allergy Clin Immunol. 2014. PMID: 25159470 Free PMC article.
81 results