Das Autoimmun-Polyendocrinopathie-Syndrom 1 ist eine autosomal dominante oder rezessive Erkrankung, die durch Mutationen im AIRE-Gen hervorgerufen wird. Klinisch ist die Erkrankung durch eine Insuffizienz verschiedener endokriner Systeme gekennzeichnet für die sich pathogenetisch bedeutsame Autoantikörper nachweisen lassen.
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55. |
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60. |
OMIM.ORG article Omim 240300 |
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Orphanet article Orphanet ID 282196 |