heavy chain disease

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A disease characterized by an excessive production of heavy chains that are short and truncated. These heavy chain disease proteins have various deletions which interfere with heavy chains to properly bond with light chains.

Patients with Franklin disease gamma chain disease usually have a history of progressive weakness, fatigue, intermittent fever, night sweats and weight loss and may present with lymphadenopathy, splenomegaly or hepatomegaly.

Patients usually have a rapid downhill course and die of infection if left untreated or misdiagnosed.

March 23, 2016