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186 results

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Page 1
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: torgerson tr. 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.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Renner ED, et al. Among authors: torgerson tr. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC article.
Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD. Renner ED, et al. Among authors: torgerson tr. J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. J Allergy Clin Immunol. 2009. PMID: 19683336 Free PMC article.
Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
Gruenberg DA, Añover-Sombke S, Gern JE, Holland SM, Rosenzweig SD, Torgerson TR, Seroogy CM. Gruenberg DA, et al. Among authors: torgerson tr. J Allergy Clin Immunol. 2010 Jan;125(1):264-5. doi: 10.1016/j.jaci.2009.07.061. Epub 2009 Nov 11. J Allergy Clin Immunol. 2010. PMID: 19910038 Free PMC article.
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. Griffith LM, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022. J Allergy Clin Immunol. 2009. PMID: 20004776 Free PMC article.
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, Rieber N, Cremer R, Maass E, Dopfer R, Reichenbach J, Wahn V, Hoenig M, Jansson AF, Roesen-Wolff A, Schaub B, Seger R, Hill HR, Ochs HD, Torgerson TR, Belohradsky BH, Renner ED. Schimke LF, et al. Among authors: torgerson tr. J Allergy Clin Immunol. 2010 Sep;126(3):611-7.e1. doi: 10.1016/j.jaci.2010.06.029. J Allergy Clin Immunol. 2010. PMID: 20816194
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
Meyer-Bahlburg A, Renner ED, Rylaarsdam S, Reichenbach J, Schimke LF, Marks A, Tcheurekdjian H, Hostoffer R, Brahmandam A, Torgerson TR, Belohradsky BH, Rawlings DJ, Ochs HD. Meyer-Bahlburg A, et al. Among authors: torgerson tr. J Allergy Clin Immunol. 2012 Feb;129(2):559-62, 562.e1-2. doi: 10.1016/j.jaci.2011.09.017. Epub 2011 Oct 26. J Allergy Clin Immunol. 2012. PMID: 22030463 No abstract available.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. Among authors: torgerson tr. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
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. Among authors: torgerson tr. 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.
186 results