title: CD43 is expressed normally on Wiskott-Aldrich-derived lymphocytes.
abstract: The Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by eczema, thrombocytopenia, and profound immunodeficiency in affected males. While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease. Several investigators have demonstrated alterations in the expression of the CD43 surface antigen on WAS hematopoietic cells, noting either absence, decreased levels or changes in the characteristic molecular weight of the protein on the lymphocytes of affected patients. Biochemical studies have further indicated that glycosylating activity of specific enzymes which may post-translationally modify CD43 is altered in both T cells and Epstein-Barr-virus (EBV)-transformed B cells in WAS patients when compared to unaffected controls. Here we present data on cells derived from two males with a clinical diagnosis of WAS. Analysis of genomic DNA from the mothers of each of these patients (obligate carriers) showed a nonrandom X-chromosome inactivation pattern of nucleated blood cells, confirming the diagnosis of the X-linked syndrome. CD43 was characterized on peripheral blood lymphocytes and long-term EBV-transformed B cell lines, both to further analyze the molecular defects of WAS, as well as to attempt to generate a reproducible method for disease detection. Surprisingly, surface expression, molecular weight and two-dimensional gel analysis failed to demonstrated any reproducible differences in the CD43 expression, whether from disease or normal lymphocytes. Such results suggest possible heterogeneity of this syndrome.
authors.affiliation: Department of Microbiology and Immunology, University of Rochester Medical Center, N.Y. 14642.
authors.forename: L
authors.initials: L
authors.lastname: Dragone
authors.forename: A
authors.initials: A
authors.lastname: Pallant
authors.forename: R
authors.initials: R
authors.lastname: Insel
authors.forename: J G
authors.initials: JG
authors.lastname: Frelinger
mesh_terms: D015703:Antigens, CD; D015153:Blotting, Western; D002461:Cell Line, Transformed; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D004854:Herpesvirus 4, Human; D006579:Heterozygote; D006801:Humans; D007223:Infant; D051917:Leukosialin; D008214:Lymphocytes / Q000276:immunology*; D008297:Male; D012795:Sialoglycoproteins / Q000235:genetics* / Q000302:isolation & purification; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D051917:Leukosialin; C465014:SPN protein, human; D012795:Sialoglycoproteins