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autoimmune lymphoproliferative syndrome (ALPS, Canale-Smith syndrome)
Pathology:
- inherited disorder of lymphocyte homeostasis & apoptosis
- abnormal lymphocyte & dendritic cell homeostasis
- immune regulatory defects
Clinical manifestations:
- arises in early childhood
- lymphadenopathy
- autoimmunity
Laboratory:
- increased numbers of CD3+CD4-CD8- T-cells
Interactions
disease interactions
Specific
autoimmune lymphoproliferative syndrome type 1A
autoimmune lymphoproliferative syndrome type 1B (ALPS1B, Canale-Smith syndrome, CSS)
autoimmune lymphoproliferative syndrome type 2A
General
autoimmune disease
genetic disease of the immune system
lymphoproliferative disorder
Database Correlations
OMIM 603909
References
- Straus SE et al.
An inherited disorder of lymphocyte apoptosis: the autoimmune
lymphoproliferative syndrome.
Ann Int Med 130:591-601, 1999
PMID: 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