Complementfaktor 9-Mangel ist eine Erkrankung, die durch Mutationen des C9-Gens hervorgerufen wird. Sind beide Allele betroffen kommt es zu einem völligen Fehlen des C9 im Plasma. Besondere Krankheitsanfälligkeiten sind für diesen Zustand nicht beobachtet worden. Bei paroxysmaler nächtlicher Hämoglobinurie scheint ein solcher Mangel sogar die Krankheit abzumildern.
Der C9-Mangel hat in Japan eine Häufigkeit von etwa 2/1000.[Error: Macro 'ref' doesn't exist]
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OMIM.ORG article Omim 613825 |