|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2010-2-17
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
1545-5017
|
|
pubmed:author |
pubmed-author:BeutelKarinK,
pubmed-author:BrycesonYenan TYT,
pubmed-author:FadeelBengtB,
pubmed-author:HasleHenrikH,
pubmed-author:HeilmannCarstenC,
pubmed-author:HenterJan-IngeJI,
pubmed-author:HultenbyKjellK,
pubmed-author:LjunggrenHans-GustafHG,
pubmed-author:MeethsMarieM,
pubmed-author:NordenskjöldMagnusM,
pubmed-author:RammeKimK,
pubmed-author:RuddEvaE,
pubmed-author:WoodStephanie MSM,
pubmed-author:ZhengChengyunC
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
54
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
563-72
|
|
pubmed:meshHeading |
pubmed-meshheading:19953648-Abnormalities, Multiple,
pubmed-meshheading:19953648-Adolescent,
pubmed-meshheading:19953648-Albinism,
pubmed-meshheading:19953648-Child,
pubmed-meshheading:19953648-DNA Mutational Analysis,
pubmed-meshheading:19953648-Female,
pubmed-meshheading:19953648-Hair,
pubmed-meshheading:19953648-Humans,
pubmed-meshheading:19953648-Immunologic Deficiency Syndromes,
pubmed-meshheading:19953648-Infant,
pubmed-meshheading:19953648-Killer Cells, Natural,
pubmed-meshheading:19953648-Lymphohistiocytosis, Hemophagocytic,
pubmed-meshheading:19953648-Male,
pubmed-meshheading:19953648-Microscopy, Electron, Transmission,
pubmed-meshheading:19953648-Mutation,
pubmed-meshheading:19953648-Pedigree,
pubmed-meshheading:19953648-rab GTP-Binding Proteins
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
|
|
pubmed:affiliation |
Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. marie.meeths@ki.se
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
