Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Der ADA2-Mangel ist eine autosomal rezessive Erkrankung, die durch amorphe oder hypomorphe Mutationen im ADA2-Gen hervorgerufen wird. Die Erkrankung manifestiert sich in recht unterschiedlichem Alter mit einer systemischen Vaskulitis, einer Panarteriitis nodosa oder Schlaganfall. Zum klnischen Spektrum der Erkrankung gehören ferner hämorrhagische Insulte, portale oder arterielle Hypertension, Blutbildveränderungen und Immundefekte.
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