Heavy Chain Disease |
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| Franklin's Disease; Franklins Disease; Heavy Chain Diseases; gamma Chain Disease; gamma-Chain Diseases; mu Chain Disease; mu-Chain Diseases | |
| A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes. | |