标题
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis
作者
关键词
-
出版物
PEDIATRICS INTERNATIONAL
Volume 54, Issue 4, Pages 447-454
出版商
Wiley
发表日期
2012-06-07
DOI
10.1111/j.1442-200x.2012.03683.x
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。- Inherited defects causing hemophagocytic lymphohistiocytic syndrome
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- A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
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- Clinical and Genetic Characteristics of XIAP Deficiency in Japan
- (2012) Xi Yang et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis
- (2012) Hirokazu Kanegane et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Epstein-Barr Virus (EBV)-associated Haemophagocytic Syndrome
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- How I treat hemophagocytic lymphohistiocytosis
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- Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
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- Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
- (2010) J. P. Schmid et al. BLOOD
- XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
- (2010) R. A. Marsh et al. BLOOD
- 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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- Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry
- (2010) Meina Zhao et al. CYTOMETRY PART B-CLINICAL CYTOMETRY
- Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency
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- XIAP as a ubiquitin ligase in cellular signaling
- (2009) S Galbán et al. CELL DEATH AND DIFFERENTIATION
- A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly
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- Importance and mechanism of ‘switch’ function of SAP family adapters
- (2009) André Veillette et al. IMMUNOLOGICAL REVIEWS
- Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation
- (2009) Kirsten Huck et al. JOURNAL OF CLINICAL INVESTIGATION
- Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells
- (2009) Zhongjun Dong et al. NATURE IMMUNOLOGY
- XIAP mediates NOD signaling via interaction with RIP2
- (2009) A. Krieg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis
- (2007) Carl E. Allen et al. PEDIATRIC BLOOD & CANCER
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