Article
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.
Journal of immunology (Baltimore, Md. : 1950) - 1 Dec 2006
Davidson Donald J, Currie Andrew J, Bowdish Dawn M E, Brown Kelly L, Rosenberger Carrie M, Ma Rebecca C, Bylund Johan, Campsall Paul A, Puel Anne, Picard Capucine, Casanova Jean-Laurent, Turvey Stuart E, Hancock Robert E W, Devon Rebecca S, Speert David P
Abstract excerpt
Innate immunodeficiency has recently been reported as resulting from the Q293X IRAK-4 mutation with consequent defective TLR/IL-1R signaling. In this study we report a method for the rapid allele-specific detection of this mutation and demonstrate both cell type specificity and ligand specificity in defective IL-1R-associated kinase (IRAK)-4-deficient cellular responses, indicating differential roles for this...
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