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URL: http://www.niaid.nih.gov/topics/alps/Pages/default.aspx
Proper Citation: Autoimmune Lymphoproliferative Syndrome Information (RRID:SCR_006451)
Description: A disease-related portal about Autoimmune Lymphoproliferative Syndrome (ALPS) including research in the following categories: Medical and Genetic Description, Database of Mutations, Database of ALPS-FAS Mutations, and Molecular Pathways. Autoimmune Lymphoproliferative Syndrome (ALPS) is a recently recognized disease in which a genetic defect in programmed cell death, or apoptosis, leads to breakdown of lymphocyte homeostasis and normal immunologic tolerance. It is an inherited disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which can lead to enlargement of these organs. Database of Mutations * All existing ALPS-FAS mutations (NIH Web site) * ALPS-FAS * ALPS Type Ia (most common type) ** Reported FAS (TNFRSF6) mutations causing ALPS ** Distribution of FAS (TNFRSF6) mutations ** FAS (TNFRSF6) polymorphisms * ALPS Type II
Abbreviations: NIAID ALPS
Synonyms: NIAID Autoimmune Lymphoproliferative Syndrome (ALPS), NIAID Autoimmune Lymphoproliferative Syndrome, ALPSbase, Autoimmune Lymphoproliferative Syndrome (ALPS)
Resource Type: disease-related portal, data or information resource, portal, topical portal
Keywords: apoptosis, autoimmune lymphoproliferative syndrome, double negative t cell, lymphocyte, pathway, immune system, clinical trial, child, adult, mutation
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