autoimmune lymphoproliferative syndrome (ALPS, Canale-Smith syndrome)
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Pathology
- inherited disorder of lymphocyte homeostasis & apoptosis
- abnormal lymphocyte & dendritic cell homeostasis
- immune regulatory defects
Clinical manifestations
- arises in early childhood
- lymphadenopathy
- autoimmunity
Laboratory
More general terms
More specific terms
- autoimmune lymphoproliferative syndrome type 1A
- autoimmune lymphoproliferative syndrome type 1B (ALPS1B, Canale-Smith syndrome, CSS)
- autoimmune lymphoproliferative syndrome type 2A
References
- ↑ Straus SE et al. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Int Med 130:591-601, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10189330
- ↑ Autoimmune lymphoproliferative syndrome Database (ALPSbase); Caspase-10 mutations causing ALPS type II http://research.nhgri.nih.gov/ALPS/alpsII_mut.shtml
- ↑ Learning About Autoimmune Lymphoproliferative Syndrome (ALPS) http://www.genome.gov/page.cfm?pageID=10001585
Patient information
autoimmune lymphoproliferative syndrome patient information