Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

I Caminha, TA Fleisher, RL Hornung… - Journal of allergy and …, 2010 - jacionline.org
946 LETTERS TO THE EDITOR 759 ng/L and 943 ng/L, respectively (Fig 1, C). Levels
above 1500 ng/L were observed in only 15%(4/28) of the patients with ALPS type III and
ALPS-phenotype, contrasting with 63%(72/114) of patients with ALPS Ia. The LR for a FAS
mutation with B12 levels> 1500 ng/L was 4.0, with a posttest probability of 87%. In contrast,
having B12 levels< 1000 ng/L diminished the posttest probability to 35%(Fig 2, B and C;
Table E4). Analysis of plasma cytokines revealed 2 additional biomarkers for ALPS: IL-18 …