Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
نویسندگان
چکیده
منابع مشابه
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in humans and is caused by mutations in the NF1 gene. To date, the majority of the reported NF1 mutations are predicted to result in protein truncation, but very few studies have correlated the causative NF1 mutation with its effect at the mRNA level. We have applied a whole NF1 cDNA screening methodology to the study ...
متن کاملFirst characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
Recent major improvement in long-term survival of younger patients with multiple myeloma. First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3) Familial hemophagocytic lymphohistiocytosis (FHL), a rare auto-somal recessive disorder of lymphocyte cytotoxicity, is caused by mutations in genes encoding perforin (FHL-2) or pr...
متن کاملthe predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
622 haematologica | 2010; 95(4) ©F err ata S tor i F un da tio n
متن کاملPlatelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5).
similar to that reported by Falini, and was associated with a higher proportion of normal karyotype (93% vs 60%; P .001), lower leukocyte count at diagnosis (32 109/L vs 69 109/L; P .01), and lower bone marrow infiltration (51% vs 72% blast cells, P .001). Interestingly, the frequency of NPM1 and FLT3 internal tandem duplication (FLT3-ITD) mutations did not differ between patients with and with...
متن کاملSpectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. T...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Haematologica
سال: 2008
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.12622