X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
نویسندگان
چکیده
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 Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States
منابع مشابه
Atypical Lymphoproliferative Diseases.
This review addresses the clinical presentation, pathology, and therapy of several uncommon lymphoid proliferations. Because these lymphoproliferations span the characteristics of reactive polymorphous proliferations to clonal malignant neoplasms, they are often difficult to diagnose and treat effectively. In Section I, Dr. Greiner describes the pathology of the spectrum of atypical lymphoid di...
متن کاملCase report of an atypical early onset X-linked retinoschisis in monozygotic twins
BACKGROUND X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression. CASE PRESENTATION We report th...
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 ...
متن کاملX linked mental retardation: a clinical guide.
Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome. Systematic screening of all other X linked genes in X linked families with mental retardation is currently not feasible in a clinical settin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2018