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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15.

Orphanet article

Orphanet ID 85138 [^]
16.

OMIM.ORG article

Omim 269200 [^]
17.

Wikipedia article

Wikipedia EN (Autoimmune_polyendocrine_syndrome_type_2) [^]
Update: April 29, 2019