Familiäre hämophygozytische Lymphohistiozytose 1 ist eine genetische Erkrankung, deren Locus noch nicht genauer definiert werden konnte. Er liegt auf der Chromosom 9q21.3-q22 und erstreckt sich über einen Bereich von über 20 Megabasen. Mehrere Gene liegen in diesem Bereich. Die Erkrankung ist durch eine Panzytopenie gekennzeichnet, die sowohl auf eine Phagozytose der Blutzellen wie auch auf eine Histiozytose des Knochenmaks zurückzuführen ist.
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