Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1)
نویسندگان
چکیده
منابع مشابه
X-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...
متن کاملX-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 in a United Kingdom family.
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 کاملMaternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X-linked lymphoproliferative disease type 1: A case report
X‑linked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline mutations in the SH2D1A gene. This gene has been reported to encode the adaptor molecule signaling lymphocytic activation molecule‑associated protein XLP1 is generally triggered by the Epstein‑Barr virus (EBV) infection. The present study reported the case of a 4‑year‑old ...
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ژورنال
عنوان ژورنال: American Journal of Clinical Pathology
سال: 2016
ISSN: 0002-9173,1943-7722
DOI: 10.1093/ajcp/aqw036