title: Ig H chain variable and C region genes in common variable immunodeficiency. Characterization of two new deletion haplotypes.
abstract: Common variable immunodeficiency, a disorder characterized by diminished antibody production, manifests clinically as an increased susceptibility to bacterial infections. We have investigated the Ig H chain V and C region gene segments in 33 patients with common variable immunodeficiency, to identify the possible role these genes may have in the molecular basis of the defect. No major deletions were recognized for the VH gene segments of the VH2, VH5, and VH6 families, nor were there any differences in the RFLP patterns of mu- or alpha- switch regions or of C gamma genes. Two new deletion haplotypes were identified for the C region genes, the first encompassing C gamma 1 on a different haplotype from the C gamma 1 deletion described previously, and the second a novel deletion encompassing both C gamma 2 and C gamma 4. Based on these and previously described deletions in the IGHC region, we postulate that homologous regions are involved in the deletion process and that other new deletions likely exist in the population.
authors.affiliation: Center for Biotechnology, Karolinska Institute, NOVUM, Huddinge, Sweden.
authors.forename: P G
authors.initials: PG
authors.lastname: Olsson
authors.forename: M H
authors.initials: MH
authors.lastname: Hofker
authors.forename: M A
authors.initials: MA
authors.lastname: Walter
authors.forename: S
authors.initials: S
authors.lastname: Smith
authors.forename: L
authors.initials: L
authors.lastname: Hammarström
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
authors.forename: D W
authors.initials: DW
authors.lastname: Cox
mesh_terms: D002872:Chromosome Deletion; D004251:DNA Transposable Elements; D005803:Genes, Immunoglobulin; D006239:Haplotypes; D006801:Humans; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D007127:Immunoglobulin Constant Regions; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region