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

doi:10.1002/pbc.22357

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

Afdeling for Børn og Unge JMC

85 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.

Originalsprog	Engelsk
Tidsskrift	Pediatric Blood & Cancer
Vol/bind	54
Udgave nummer	4
Sider (fra-til)	563-72
Antal sider	10
ISSN	1545-5009
DOI	https://doi.org/10.1002/pbc.22357
Status	Udgivet - 1 apr. 2010

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10.1002/pbc.22357

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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.",

author = "Marie Meeths and Bryceson, {Yenan T} and Eva Rudd and Chengyun Zheng and Wood, {Stephanie M} and Kim Ramme and Karin Beutel and Henrik Hasle and Heilmann, {Carsten Johan} and Kjell Hultenby and Hans-Gustaf Ljunggren and Bengt Fadeel and Magnus Nordenskj{\"o}ld and Jan-Inge Henter",

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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 -

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

Abstract

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