... Journal compilation © 2008 Biochemical Society 2008 genetic variation immunodeficiency inflammation innate immunity polymorphism Toll-like receptor (TLR) Figure 1 Overview of the human TLR signalling pathway TLR ligation initiates a signalling cascade that culminates...

.... In contrast, localization of the second disease gene by linkage analysis was critical to implicate a gene with a previously unsuspected disease role. 2. Two sisters with chronic respiratory disease and recurrent infections were identified as the first cases of adult onset immunodeficiency due to adenosine...

... activity and superoxide production during phagocytosis. The immunodeficiency in inherited ADA deficiency was related to a defect in this process. 2. Since there is considerable interspecies variation in the tissue distribution of xanthine oxidase, the metabolism of [8- 14 C]deoxyadenosine (dAR), the toxic...

... deficiency; deoxyadenosine in adenosine deaminase deficiency, the latter having previously been identified erroneously as adenine after degradation in the acidic conditions used. 3. Deoxyriboside excretion was specific for the two defects associated with immunodeficiency; adenine for adenine...