Article
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Clinical and experimental immunology - 1 Jun 2014
Ammann S, Elling R, Gyrd-Hansen M, Dückers G, Bredius R, Burns S O, Edgar J D M, Worth A, Brandau H, Warnatz K, Zur Stadt U, Hasselblatt P, Schwarz K, Ehl S, Speckmann C
Abstract excerpt
X-linked inhibitor of apoptosis (XIAP) deficiency, caused by mutations in BIRC4, is an immunodeficiency associated with immune dysregulation and a highly variable clinical presentation. Current diagnostic screening tests such as flow cytometry for XIAP expression or lymphocyte apoptosis assays have significant limitations. Based on recent evidence that XIAP is essential for nucleotide-binding and oligomerization...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.