Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autoimmun-polyendocrinopathie Syndrom 2

Das autoimmun-polyendocrinopathie Syndrom 2 ist eine autosomal dominante Erkrankung die mit dem HLA-Lokus assoziiert ist. Der genaue zugrundeliegende gendefekt konnte bisher noch nicht aufgedeckt werden. Die Erkrankung ist durch eine polyglanduläre Insuffizienz aufgrund von Autoantikörpern charakterisiert.

Epidemiologie

Die Häufigkeit der Erkrankung wird mit 1,4-4,5 je 100.000 angegeben.[1]

Gliederung

Autoimmune Polyendokrinopathie
Autoimmun-polyendocrinopathie Syndrom 1
Autoimmun-polyendocrinopathie Syndrom 2
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

Referenzen:

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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