Heavy chain disease

Heavy chain disease
SpecialtyImmunology, hematology

Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the proliferation of cells producing immunoglobulin heavy chains.[1]

This disease is characterized by an excessive production of heavy chains that are short and truncated. These heavy chain disease proteins have various deletions, mainly in their amino-terminal part, which causes the heavy chains to lose the ability to form disulfide bonds with the light chains. The defect in the immunoglobulins presumably arises during somatic hypermutation.[2] Deletion of the N-terminal part of the heavy chain disease protein leads to aggregation and signaling of the B cell receptor,[3] presumably due to the loss of the anti-aggregating properties of the light chain.[4]

  1. ^ "Heavy Chain Diseases: Plasma Cell Disorders: Merck Manual Home Edition". Retrieved 2008-02-29.
  2. ^ Goossens T, Klein U, Küppers R (1998). "Frequent occurrence of deletions and duplications during somatic hypermutation: Implications for oncogene translocations and heavy chain disease". PNAS. 95 (5): 2463–8. Bibcode:1998PNAS...95.2463G. doi:10.1073/pnas.95.5.2463. PMC 19376. PMID 9482908.
  3. ^ Corcos D, Dunda O, Butor C, Cesbron JY, Lorès P, Bucchini D, Jami J (1995). "Pre-B-cell development in the absence of lambda 5 in transgenic mice expressing a heavy-chain disease protein". Curr. Biol. 5 (10): 1140–8. doi:10.1016/S0960-9822(95)00230-2. PMID 8548286. S2CID 18737035.
  4. ^ Corcos D, Osborn MJ, Matheson LS, Santos F, Zou X, Smith JA, Morgan G, Hutchings A, Hamon M, Oxley D, Brüggemann M (2010). "Immunoglobulin aggregation leading to Russell body formation is prevented by the antibody light chain". Blood. 115 (2): 282–8. doi:10.1182/blood-2009-07-234864. PMID 19822901.