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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
Autoimmun-Polyendocrinopathie-Syndrom 3
Autoimmun-Polyendocrinopathie-Syndrom 4
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie
FOXP3

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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Bennett CL et al. (2000) X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

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Goulet OJ et al. (1998) Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

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Roberts J et al. () Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans.

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9.

Satake N et al. (1993) A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy.

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Meyer B et al. () [2 cases of neonatal diabetes].

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11.

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Jonas MM et al. (1991) Congenital diabetes mellitus and fatal secretory diarrhea in two infants.

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

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Owen CJ et al. (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

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16.

Levy-Lahad E et al. (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

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17.

Brunkow ME et al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

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

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19.

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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20.

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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21.

Ferguson PJ et al. (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

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22.

Clark LB et al. (1999) Cellular and molecular characterization of the scurfy mouse mutant.

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23.

Lyon MF et al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

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24.

OMIM.ORG article

Omim 304790 external link
Update: 14. August 2020
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