X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
نویسندگان
چکیده
منابع مشابه
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
1 Molecular and Cellular Immunology Section, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom, 2 Department of Pediatric Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, 3 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States, 4 National Institute of ...
متن کاملX-Linked Lymphoproliferative Disease
2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed pat...
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Systemic vasculitis is an uncommon manifestation of X-linked lymphoproliferative disease (XLP), a disorder in which there is a selective immune deficiency to Epstein-Barr virus (EBV). The molecular basis for XLP has recently been ascribed to mutations within SLAM-associated protein (SAP), an SH2 domain-containing protein expressed primarily in T cells. The authors describe a patient who died as...
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X linked lymphoproliferative disease (XLP; Duncan's disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein-Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with l...
متن کاملClinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease
BACKGROUND X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. METHODS A total of 22 patients from unrelated families, who were re...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2018
ISSN: 1664-3224
DOI: 10.3389/fimmu.2018.00666