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Functional genetic variation in NFKBIA and susceptibility to childhood asthma, bronchiolitis, and bronchopulmonary dysplasia.
Ali S, Hirschfeld AF, Mayer ML, Fortuno ES 3rd, Corbett N, Kaplan M, Wang S, Schneiderman J, Fjell CD, Yan J, Akhabir L, Aminuddin F, Marr N, Lacaze-Masmonteil T, Hegele RG, Becker A, Chan-Yeung M, Hancock RE, Kollmann TR, Daley D, Sandford AJ, Lavoie PM, Turvey SE. Ali S, et al. Among authors: turvey se. J Immunol. 2013 Apr 15;190(8):3949-58. doi: 10.4049/jimmunol.1201015. Epub 2013 Mar 13. J Immunol. 2013. PMID: 23487427
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.
Davidson DJ, Currie AJ, Bowdish DM, Brown KL, Rosenberger CM, Ma RC, Bylund J, Campsall PA, Puel A, Picard C, Casanova JL, Turvey SE, Hancock RE, Devon RS, Speert DP. Davidson DJ, et al. Among authors: turvey se. J Immunol. 2006 Dec 1;177(11):8202-11. doi: 10.4049/jimmunol.177.11.8202. J Immunol. 2006. PMID: 17114497 Free PMC article.
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
McCusker C, Hotte S, Le Deist F, Hirschfeld AF, Mitchell D, Nguyen VH, Gagnon R, Mazer B, Turvey SE, Jabado N. McCusker C, et al. Among authors: turvey se. Clin Immunol. 2009 Jun;131(3):447-55. doi: 10.1016/j.clim.2009.01.014. Epub 2009 Feb 25. Clin Immunol. 2009. PMID: 19246248
366 results