Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

Marie Meeths, Yenan T Bryceson, Eva Rudd, Chengyun Zheng, Stephanie M Wood, Kim Ramme, Karin Beutel, Henrik Hasle, Carsten Johan Heilmann, Kjell Hultenby, Hans-Gustaf Ljunggren, Bengt Fadeel, Magnus Nordenskjöld, Jan-Inge Henter

81 Citationer (Scopus)

Abstract

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, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed.
OriginalsprogEngelsk
TidsskriftPediatric Blood & Cancer
Vol/bind54
Udgave nummer4
Sider (fra-til)563-72
Antal sider10
ISSN1545-5009
DOI
StatusUdgivet - 1 apr. 2010

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