Das hereditäres Angioödem Typ 1 ist eine autosomal dominante Erkrankung die durch trunkierende Mutationen im SERPING1-Gen (vormals C1NH) hervorgerufen wird. Das klinische Bild besteht in intermittierenden lokal begrenzten Ödemen der Subkutis und der Submukosa. Letztere vor allem im oberen Altmungs- und Verdauungstrakt.
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| 1. |
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Schwarz S et al. (1981) Hormone binding globulin levels in patients with hereditary angiooedema during treatment with Danazol.
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None (1961) Chronic familial giant urticaria.
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Perricone R et al. (1992) Cystic ovaries in women affected with hereditary angioedema.
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None (1978) The "cure" of an inherited disease.
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Blumenthal MN et al. (1978) Lack of linkage between hereditary angioedema and the A and B loci of the HLA system.
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Stewart GJ et al. (1979) Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers.
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Johnson AM et al. (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema.
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Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
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Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.
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Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema.
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Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.
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Levy NJ et al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
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| 59. |
Zuraw BL et al. (1986) Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients.
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| 60. |
Weinstock LB et al. (1987) Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members.
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| 61. |
Muhlemann MF et al. (1987) Hereditary angioedema and thyroid autoimmunity.
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| 62. |
Jackson J et al. () An IgG autoantibody which inactivates C1-inhibitor.
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None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes.
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| 67. |
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| 68. |
OMIM.ORG article Omim 106100
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