Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Eosinophile Peroxidase-Mangel

Der Mangel an eosinophiler Peroxidase ist eine Zustand der durch Mutationen im EPX-Gen auftreten kann. Die pathogenetische Bedeutung ist noch ungeklärt. Ein Zusammenhang mit Lebensmittelunverträglichkeiten wird diskutiert.

Gliederung

Lebensmittelunverträglichkeiten
Eosinophile Peroxidase-Mangel
EPX
Erwachsenentyp der Laktoseintoleranz
Fruktose Malabsorption
Fruktose-1,6-Bisphosphatase-Mangel
Fruktoseintoleranz
Fruktosurie
Glucose-Galactose-Malabsorption
Histamin-Intoleranz
Lactasemangel
Lysinurische Proteinintoleranz
Sitosterolämia
Trehalasemangel

Referenzen:

1.

Romano M et. al. (1994) Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.

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2.

Nakagawa T et. al. (2001) Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.

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3.

Zabucchi G et. al. (1992) Eosinophil peroxidase deficiency: morphological and immunocytochemical studies of the eosinophil-specific granules.

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4.

Lepelley P et. al. (1987) Total peroxidase deficiency in eosinophils: a report on twin sisters, one with a refractory anaemia.

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5.

Valdés MD et. al. (1987) Deficiency of eosinophil peroxidase detected by automated cytochemistry.

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6.

Lejeune F et. al. (1988) [Peroxidase deficiency in eosinophils: an optical and electron microscopy cytologic study apropos of a case].

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7.

Hoffmann JJ et. al. (1987) Partial deficiency of eosinophil peroxidase.

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8.

Presentey B et. al. (1969) Hereditary deficiency of peroxidase and phospholipids in eosinophilic granulocytes.

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9.

None (1970) Partial and severe peroxidase and phospholipid deficiency in eosinophils. Cytochemical and genetic considerations.

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10.

None (1969) Morphologic observations and genetic follow-up of a familial anomaly of eosinophils.

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11.

Presentey B et. al. (1982) Peroxidase and phospholipid deficiency in human eosinophilic granulocytes--a marker in population genetics.

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12.

None (1984) Ultrastructure of human eosinophils genetically lacking peroxidase.

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