Article
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Pediatric blood & cancer - 1 Apr 2010
Meeths Marie, Bryceson Yenan T, Rudd Eva, Zheng Chengyun, Wood Stephanie M, Ramme Kim, Beutel Karin, Hasle Henrik, Heilmann Carsten, Hultenby Kjell, Ljunggren Hans-Gustaf, Fadeel Bengt, Nordenskjöld Magnus, Henter Jan-Inge
Abstract excerpt
BACKGROUND: Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition,...
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