Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Griscelli-Syndrom Typ 2

Das Griscelli-Syndrom Typ 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen im RAB27A-Gen hervorgerufen wird. Die Erkrankung ist charakterisiert durch dermatologische (Hypopigmentation, silber-graue Haare), neurologische (Krämpfe) und immunologische Abnormalitäten.

Gliederung

Erbliche immunologische Erkrankungen
Atopie
Autoimmunerkrankungen
Autoinflammatorische Erkrankungen
Chediak-Higashi-Syndrom
Erbliche Complementstörungen
Griscelli-Syndrom Typ 2
RAB27A
Interferonopathie
Neigung zu Asthma bronchiale
Neigung zu allergischer Rhinitis
Primärer Immundefekt
Schutz vor Graft-versus-host-disease
Störungen der Immunglobulinbildung

Referenzen:

1.

Hurvitz H et al. (1993) A kindred with Griscelli disease: spectrum of neurological involvement.

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2.

Pastural E et al. (2000) Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

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3.

Ménasché G et al. (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

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4.

Anikster Y et al. (2002) Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

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5.

Aksu G et al. (2003) Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.

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6.

Bizario JC et al. (2004) Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

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7.

Griscelli C et al. (1978) A syndrome associating partial albinism and immunodeficiency.

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8.

Harfi HA et al. () Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency.

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9.

Klein C et al. (1994) Partial albinism with immunodeficiency (Griscelli syndrome).

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10.

Durandy A et al. (1993) Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).

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11.

Göğüş S et al. () Griscelli syndrome: report of three cases.

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12.

Mancini AJ et al. (1998) Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.

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13.

Ménasché G et al. (2002) Griscelli syndrome types 1 and 2.

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14.

Bahadoran P et al. (2003) Hypomelanosis, immunity, central nervous system: no more "and", not the end.

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15.

Bahadoran P et al. (2003) Comment on Elejalde syndrome and relationship with Griscelli syndrome.

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Update: 17. Oktober 2019