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Autoimmune polyendocrinopathy syndrome 1

Autoimmune polyendocrinopathy syndrome 1 is an autosomal dominant or recessive disorder caused by mutations of the AIRE gene. Clinical features include insufficiency of several endocrine systems due to autoantibodies. Additionally metaphyseal dysplasia and chronic candida infections are common.

Systematic

Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
AIRE
Autoimmune polyendocrinopathy syndrome 2
Autoimmune polyendocrinopathy syndrome 3
Autoimmune polyendocrinopathy syndrome 4
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

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60.

OMIM.ORG article

Omim 240300 external link
61.

Orphanet article

Orphanet ID 282196 external link
62.

Wikipedia article

Wikipedia EN (Autoimmune_polyendocrine_syndrome_type_1) external link
Update: Aug. 14, 2020
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