title: [Unusual immunoglobulin gene rearrangements in patients with immunodeficiency].
abstract: In a 64-year-old patient with typical common variable immunodeficiency (CVID) DNA prepared from peripheral blood lymphocytes (PBL) showed a prominent immunoglobulin heavy chain (IgH) gene rearrangement; the immunoglobulin light chain (IgL) genes were found to be in the germline configuration. In contrast, a 13-year-old girl with a hitherto unidentified immunodeficiency showed polyclonal IgH gene rearrangements and a dominant IgL gene rearrangement. In both cases neither monoclonal B-lymphocytes nor monoclonal immunoglobulins were detectable. Our explanation for this unusual observation is that V-gene use in a given B-cell is not entirely random. This may be the consequence of a maturation arrest of B-cells.
authors.affiliation: Abteilung für Rheumatologie und Klinische Immunologie, Max-Planck-Institut für Psychiatrie, Martinsried.
authors.forename: G
authors.initials: G
authors.lastname: Hauke
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: M
authors.initials: M
authors.lastname: Gahr
authors.forename: A
authors.initials: A
authors.lastname: Hollmann
authors.forename: S
authors.initials: S
authors.lastname: Pfister
authors.forename: J A
authors.initials: JA
authors.lastname: Rump
authors.forename: H H
authors.initials: HH
authors.lastname: Peter
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology; D005260:Female; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain; D015328:Gene Rearrangement, B-Lymphocyte, Light Chain; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007147:Immunoglobulin Light Chains / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008875:Middle Aged
chemical_list: D007143:Immunoglobulin Heavy Chains; D007147:Immunoglobulin Light Chains
vernacular_title: Ungewöhnliche Immunglobulin-Gen-Rearrangements bei Patienten mit Immundefekt.