Regulation of Anti-Tumor Activity Using Monoclonal Antibodies to Alpha-Fetoprotein Receptor and after Immunization with This Protein.
Wiskott-Aldrich syndrome (WAS), an inherited blood cell disorder due to mutations of the X-chromosome gene WASP (Wiskott-Aldrich Syndrome Protein), was characterized originally by thrombocytopenia, immunodeficiency and eczema. Whereas platelet dysfunction is severe and consistent, immune defects are clinically variable, ranging from negligible to life-threatening. To understand this heterogeneity, WASP was quantified in peripheral blood mononuclear cells of patients with diverse mutations. In this study we assessed the relationship between the mutation, protein expression and phenotype in WAS patients. The majority of the patients with missense mutations exhibited mild phenotype, whereas patients with premature stop codon were in most cases severe. We designed a one-step approach intended for use in identifying mutations in samples from newly diagnosed patients. The approach relies on direct sequencing of amplified exon regions in a staggered schedule that was based on the mutation distribution frequency in previous cases. The method proved to be fast and reliable. Definitive mutation information was generated for each patient studied.
Loutski
Maxim
M
Research Institute for Pediatric Hematology, Moscow, Russia.
Remold-O'Donnell
Eileen
E
Roumiantsev
Alexander G.
AG
Shcherbina
Anna
A