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Moldiag Erkrankungen Gene Support Kontakt

Autoimmun-Polyendocrinopathie-Syndrom 1

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.

Gliederung

Autoimmune Polyendokrinopathie
Autoimmun-Polyendocrinopathie-Syndrom 1
AIRE
Autoimmun-Polyendocrinopathie-Syndrom 2
Autoimmun-Polyendocrinopathie-Syndrom 3
Autoimmun-Polyendocrinopathie-Syndrom 4
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

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OMIM.ORG article

Omim 240300 external link
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Orphanet article

Orphanet ID 282196 external link
Update: 14. August 2020
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