Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autoimmune polyendocrinopathy syndrome 2

Autoimmune polyendocrinopathy syndrome 2 is an autosomal dominant disorder linked to the HLA locus. The exact molecular cause of the disease remains to be clarified. The disease is characterised by polyglandular insufficiency caused by autoantibodies.

Epidemiology

The frequency of the disease is about 1.4 to 4.5 per 100,000 individuals[Error: Macro 'ref' doesn't exist]

Systematic

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

References:

1.

Gambelunghe G et. al. (1999) Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.

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2.

Maclaren NK et. al. (1986) Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome.

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3.

Eisenbarth GS et. al. (2004) Autoimmune polyendocrine syndromes.

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4.

Eisenbarth GS et. al. (1979) The polyglandular failure syndrome: disease inheritance, HLA type, and immune function.

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5.

Eisenbarth G et. al. (1978) HLA type and occurrence of disease in familial polyglandular failure.

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6.

Bottazzo GF et. al. (1974) Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies.

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7.

Butler MG et. al. (1984) Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome).

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8.

Anderson PB et. al. (1980) Familial Schmidt's syndrome.

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9.

Heuss D et. al. (1995) Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome).

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10.

Betterle C et. al. (2002) Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.

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11.

CARPENTER CC et. al. (1964) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY). A REVIEW OF THE LITERATURE AND A REPORT OF FIFTEEN NEW CASES INCLUDING TEN INSTANCES OF COEXISTENT DIABETES MELLITUS.

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12.

PHAIR JP et. al. (1965) DIABETES MELLITUS, ADDISON'S DISEASE AND MYXEDEMA--REPORT OF TWO CASES.

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13.

SOLOMAN N et. al. (1965) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY) AND COEXISTENT DIABETES MELLITUS.

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14.

Betterle C et. al. (2004) Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?

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Update: Sept. 26, 2018