Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

Die X-chromosomale Immunsysregulation, Polyendokrinopathie und Enteropathie ist eine rezessive Erkrankung, die durch Mutationen im FOXP3-Gen hervorgerufen wird. Klinisch besteht ein Typ 1 Diabetes, eine sekretorische Diarrhoe und eine Dermatitis. Weitere Autoimmunphänomene können zu folgenden Erkrankungen führen Hypothyreose, hämolytische Anämie, Thrombozytopenie, Lymphadenopathie, Hepatitis und Nephritis.

Gliederung

Autoimmune Polyendokrinopathie
Autoimmun-polyendocrinopathie Syndrom 1
Autoimmun-polyendocrinopathie Syndrom 2
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie
FOXP3

Referenzen:

1.

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2.

Powell BR et. al. (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

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3.

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4.

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5.

Chatila TA et. al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.

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6.

Wildin RS et. al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

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7.

Bennett CL et. al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

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8.

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9.

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10.

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11.

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12.

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14.

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16.

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17.

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18.

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19.

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20.

None (2001) Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse.

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21.

Baud O et. al. (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.

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22.

Gambineri E et. al. (2008) Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

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23.

d'Hennezel E et. al. (2012) The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

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