Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Maszell-Aktivierungs-Syndrom

Das Maszell-Aktivierungs-Syndrom ist ein Erkrankung, die eine Allergie imponiert, bei welcher aber kein Allergen der Auslöser ist sonder innere Störungen der Immunregulation. Es finden sich deshalb nicht selten somatische oder Keimbahnmutationen.

Gliederung

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

Referenzen:

1.

None (1978) Urticaria pigmentosa in identical twins.

[^]
2.

Anstey A et. al. (1991) Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study.

[^]
3.

Boyano T et. al. (1990) Urticaria pigmentosa in monozygotic twins.

[^]
4.

Oku T et. al. (1990) The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis).

[^]
5.

Clark DP et. al. (1990) Familial urticaria pigmentosa.

[^]
6.

Fowler JF et. al. (1986) Familial urticaria pigmentosa.

[^]
7.

Burgoon CF et. al. (1968) Mast cell disease. A cutaneous variant with multisystem involvement.

[^]
8.

Selmanowitz VJ et. al. (1970) Uniovular twins discordant for cutaneous mastocytosis.

[^]
9.

Bazex A et. al. (1971) [Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance].

[^]
10.

Selmanowitz VJ et. al. (1970) Mastocytosis. A clinical genetic evaluation.

[^]
11.

None (1968) Genetic aspects of urticaria pigmentosa.

[^]
12.

James MP et. al. (1981) Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study.

[^]
13.

Noto G et. al. (1995) Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up.

[^]
14.

Rosbotham JL et. al. (1999) Lack of c-kit mutation in familial urticaria pigmentosa.

[^]
15.

Tefferi A et. al. (2009) Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates.

[^]
Update: 23. März 2018