[Gamma-1 heavy chain disease with the demonstration of Bence-Jones proteins].
We describe a 61-year-old patient suffering from gamma-1-heavy-chain disease (gamma 1-HCD) associated with Bence-Jones-lambda proteinemia and proteinuria. The analysis of the patients gamma 1-HCD protein (WIN) shows a deletion of the complete Fd fragment. The N-terminal seven amino-acid residue does not resemble any of the known immunoglobulin-heavy-chain variable regions. Unexpectedly, in PBL-DNA and in DNA from EBV-immortalized cells we found in addition to the expected predominantly rearranged Ig-lambda-light-chain gene a predominant rearrangement of an Ig-kappa gene. These findings show that the gamma-1-heavy-chain disease of the patient involves a defective regulation of Ig-light-chain-gene activation as well.
Hauke
G
G
Abteilung für Rheumatologie und Klinische Immunologie, Universität Freiburg.
Krawinkel
U
U
Schiltz
E
E
Metz
B
B
Hollmann
A
A
Peter
H H
HH
D000595:Amino Acid Sequence; D001536:Bence Jones Protein / Q000032:analysis* / Q000652:urine; D015321:Gene Rearrangement; D006362:Heavy Chain Disease / Q000097:blood* / Q000652:urine; D006801:Humans; D007122:Immunoelectrophoresis; D007142:Immunoglobulin gamma-Chains / Q000737:chemistry; D007145:Immunoglobulin kappa-Chains / Q000235:genetics; D007146:Immunoglobulin lambda-Chains / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data
D007142:Immunoglobulin gamma-Chains; D007145:Immunoglobulin kappa-Chains; D007146:Immunoglobulin lambda-Chains; D001536:Bence Jones Protein
Gamma-1-Schwerkettenkrankheit mit Nachweis von Bence-Jones-Proteinen.