[Unusual immunoglobulin gene rearrangements in patients with immunodeficiency].
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.
Hauke
G
G
Abteilung für Rheumatologie und Klinische Immunologie, Max-Planck-Institut für Psychiatrie, Martinsried.
Epplen
J T
JT
Gahr
M
M
Hollmann
A
A
Pfister
S
S
Rump
J A
JA
Peter
H H
HH
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
D007143:Immunoglobulin Heavy Chains; D007147:Immunoglobulin Light Chains
Ungewöhnliche Immunglobulin-Gen-Rearrangements bei Patienten mit Immundefekt.