A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
出版年份 2012 全文链接
标题
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
作者
关键词
-
出版物
BLOOD
Volume 119, Issue 12, Pages 2754-2763
出版商
American Society of Hematology
发表日期
2012-02-01
DOI
10.1182/blood-2011-08-374199
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
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- Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome
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- pROC: an open-source package for R and S+ to analyze and compare ROC curves
- (2011) Xavier Robin et al. BMC BIOINFORMATICS
- Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
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- Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
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- XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
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- X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
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- correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis
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- Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)
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- Viral infections associated with haemophagocytic syndrome
- (2010) Nadine Rouphael Maakaroun et al. REVIEWS IN MEDICAL VIROLOGY
- Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
- (2009) Udo zur Stadt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors
- (2009) Y. T. Bryceson et al. BLOOD
- Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
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- (2009) Rebecca A. Marsh et al. CYTOMETRY PART B-CLINICAL CYTOMETRY
- Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy
- (2009) Sumit Gupta et al. Expert Review of Clinical Immunology
- Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
- (2009) Marjorie Côte et al. JOURNAL OF CLINICAL INVESTIGATION
- Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step
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- When T cells and macrophages do not talk: the hemophagocytic syndromes
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- Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
- (2008) A. Santoro et al. HAEMATOLOGICA
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