Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
Tarih
2006Yazar
Gurgey, A
Henter, JI
Ozkan, A
Fadeel, B
Nordenskjold, M
Rudd, E
Ericson, KG
Zheng, C
Uysal, Z
Üst veri
Tüm öğe kaydını gösterÖzet
Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation characterised by a defect in natural killer cell function.
Koleksiyonlar
- Makale [92796]