Griscelli disease
Griscelli syndrome
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both.
Mutations in one of two different genes on chromosome 15q can cause the two different subtypes of GS.
Etiology
Mutations in in RAB27A (15q), which codes for a small GTPase(hemophagocytic syndrome)
Mutations in MYO5A, which codes for an actin-based molecular motor (neurological involvement)
The RAB27A and MYO5A gene products interact with each other and function in vesicle trafficking.
References
Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: #16260137#
Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science. 2004 Jul 2;305(5680):55-9. PMID: #15232098#
Griffiths GM. Albinism and immunity: what's the link? Curr Mol Med. 2002 Aug;2(5):479-83. PMID: #12125813#
Griscelli syndrome - Hair - Child with a RAB27A mutation
Griscelli syndrome - Hair - Child with a RAB27A mutation (Courtesy of V. Kokta)
Griscelli syndrome - Hair - Child with a RAB27A mutation (Courtesy of V. Kokta)
Griscelli syndrome - Hair - Child with a RAB27A mutation (Courtesy of V. Kokta)
Griscelli syndrome - Hair - Child with a RAB27A mutation (Courtesy of V. Kokta)
Griscelli syndrome - Skin
Griscelli syndrome - Skin
Griscelli syndrome - Skin
Griscelli syndrome - Skin
Griscelli disease - Melanocyte ultrastructure - EM 7100x
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