title: Serum immunoglobulin levels in heterozygous subjects with immunoglobulin heavy chain constant region gene deletions.
abstract: The immunoglobulin heavy chain constant region locus is a multigene family composed of nine genes and two pseudogenes, whose high homology is often responsible for meiotic mispairings leading to deleted and duplicated haplotypes. These rearrangements have a population frequency of about 1.5% and 4.5% respectively, with a significant difference between deletions and duplications (P < 0.001). Both positive selection of duplications or negative selection against deletions can account for this imbalance. Serum levels of IgG and IgA subclasses, of IgE, of isohemagglutinins and of IgG antibodies to tetanus toxoid and pneumococcal antigens were evaluated in 11 heterozygous carriers of constant region deletions. There was no gross abnormality in serum IgG and IgA subclass levels, with the possible exception of G1-deleted individuals; furthermore, isohemagglutinins and anti-tetanus toxoid and pneumococcal IgG antibodies are in the normal range, suggesting that the humoral immune response is normal in these carriers. The influence of single and multiple immunoglobulin heavy chain constant region gene deletions on the humoral response is discussed.
authors.affiliation: Dipartimento di Genetica Biologia e Chimica Medica e Centro CNR CII-CIOS, Turin, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Brusco
authors.forename: C
authors.initials: C
authors.lastname: Boccazzi
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: G G
authors.initials: GG
authors.lastname: DeLange
authors.forename: S
authors.initials: S
authors.lastname: Depelchin
authors.forename: A O
authors.initials: AO
authors.lastname: Carbonara
mesh_terms: D000328:Adult; D017353:Gene Deletion; D006388:Hemagglutinins / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007073:Immunoglobulin E / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007143:Immunoglobulin Heavy Chains / Q000235:genetics* / Q000648:ultrastructure; D007136:Immunoglobulins / Q000097:blood* / Q000235:genetics / Q000648:ultrastructure; D008875:Middle Aged; D010375:Pedigree; D013296:Streptococcus pneumoniae / Q000276:immunology; D013745:Tetanus Toxoid / Q000276:immunology
chemical_list: D006388:Hemagglutinins; D007070:Immunoglobulin A; D007127:Immunoglobulin Constant Regions; D007074:Immunoglobulin G; D007143:Immunoglobulin Heavy Chains; D007136:Immunoglobulins; D013745:Tetanus Toxoid; D007073:Immunoglobulin E