TY - JOUR
T1 - Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
AU - Meeths, Marie
AU - Bryceson, Yenan T
AU - Rudd, Eva
AU - Zheng, Chengyun
AU - Wood, Stephanie M
AU - Ramme, Kim
AU - Beutel, Karin
AU - Hasle, Henrik
AU - Heilmann, Carsten Johan
AU - Hultenby, Kjell
AU - Ljunggren, Hans-Gustaf
AU - Fadeel, Bengt
AU - Nordenskjöld, Magnus
AU - Henter, Jan-Inge
PY - 2010/4/1
Y1 - 2010/4/1
N2 - 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.
AB - 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.
U2 - 10.1002/pbc.22357
DO - 10.1002/pbc.22357
M3 - Journal article
C2 - 19953648
SN - 1545-5009
VL - 54
SP - 563
EP - 572
JO - Pediatric Blood & Cancer
JF - Pediatric Blood & Cancer
IS - 4
ER -