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Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
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Autoimmune Lymphoproliferative Syndrome Database
(ALPSbase):
Database of mutations causing human ALPS
Prepared by ALPS investigators at NIAID and NHGRI
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 regulation. Patients with ALPS have chronic enlargement of the spleen and lymph nodes, various manifestations of autoimmunity, and elevation of a normally rare population of "double negative T cells" (DNTs), T lymphocytes expressing neither cluster differentiation CD4 nor CD8 surface antigens. When lymphocytes from patients with ALPS are cultured in vitro, they are resistant to apoptosis as compared to cells from healthy controls. Most patients with ALPS have mutations in a gene now named TNFRSF6 (tumor necrosis factor receptor gene superfamily member 6). This gene encodes the cell surface receptor for the major apoptosis pathway in mature lymphocytes. The gene and protein have had several names including Fas (used here), APO-1 and APT1. ALPS is subdivided into: 1) Type Ia, ALPS with mutant Fas; 2) Type Ib, lymphadenopathy and systemic lupus erythematosus with mutation in the ligand for Fas; 3) Type II, ALPS with mutant caspase-10 or caspase-8; and 4) Type III, ALPS as yet without a defined genetic cause.
- ALPS -- What is it?
- Medical and genetic description of ALPS
- ALPSbase: Database of mutations causing ALPS
- ALPS Type Ia (most common type)
- Reported FAS (TNFRSF6) mutations causing ALPS
- Distribution of FAS (TNFRSF6) mutations
- FAS (TNFRSF6) polymorphisms
- ALPS Type II
- ALPSbase data submission form
- Molecular pathways related to ALPS
- Illustrations of ALPS studies
- Research on ALPS at NIH
- List of investigators
- References
- Other resources
Comments, suggestions and problems to bioinformatics@nhgri.nih.gov
