Die Meerblaue Histiozytenerkrankung wird autosomal rezessiv vererbt. Als Ursache konnte die Deletion einer Aminosäure (NM_000041.2:p.L167del) im APOE-Gen gesichert werden. Zu den Symptomen gehören eine Splenomegalie und eine Thrombozytopenie. In Knochenmark finden sich Histiozyten deren Granula sich hellblau anfärben. Die Familienuntersuchungen deuten auf einen Founder von französisch-kanadischer Abstammung.
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OMIM.ORG article Omim 269600 |