Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways
نویسندگان
چکیده
منابع مشابه
Clinical, Immunologic, and Genetic Features of an Autoimmune Lymphoproliferative Syndrome Associated With Abnormal Lymphocyte Apoptosis
Programmed cell death (apoptosis) of activated lymphoan unusual population of CD4CD8 T cells that express the a/b T-cell receptor (TCR). All patients showed defective lymcytes is critical to immune homeostasis. The cell surface protein Fas (CD95) and its ligand play a pivotal role in reguphocyte apoptosis in vitro. Heterozygous mutations of the Fas gene were detected in 8 patients. One ALPS pat...
متن کاملClincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Programmed cell death (apoptosis) of activated lymphocytes is critical to immune homeostasis. The cell surface protein Fas (CD95) and its ligand play a pivotal role in regulating lymphocyte apoptosis, and defective expression of either Fas or Fas ligand results in marked over accumulation of mature lymphocytes and autoimmune disease in mice. The results of recent studies suggest that defective ...
متن کاملAutoimmune lymphoproliferative syndrome.
PURPOSE OF REVIEW The autoimmune lymphoproliferative syndrome is a recently identified human disorder of lymphocyte apoptosis that has provided important information about Fas-mediated lymphocyte apoptosis. In this review we summarize current information regarding the diagnosis, management and underlying molecular basis of the syndrome. RECENT FINDINGS The genetic basis of autoimmune lymphopr...
متن کاملAutoimmune Lymphoproliferative Syndrome
1»Titu Maiorescu« University, Faculty of Medicine, Department of Physiology, Center for Rheumatic Diseases, Bucharest, Romania 2»Carol Davila« University of Medicine and Pharmacy, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania 3University of Medicine and Pharmacy, Department of Immunology, Craiova, Romania 4»Carol Davila« University of Medicine and Pharmacy, Clinical Hospi...
متن کاملAutoimmune Lymphoproliferative Syndrome Misdiagnosed as Hemophagocytic Lymphohistiocytosis A Case Report
Autoimmune lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of apoptosis. It usually presents with chronic lymphadenopathy, splenomegaly, and symptomatic cytopenia in a child. Herein, we report a 14-year-old boy with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis who was treated before ALPS was diagnosed for the patient. This case should alert pediatricians to consi...
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ژورنال
عنوان ژورنال: Cell Death & Differentiation
سال: 2003
ISSN: 1350-9047,1476-5403
DOI: 10.1038/sj.cdd.4401190