Autoimmune lymphoproliferative syndrome
Other Names for this Disease
- Canale-Smith syndrome
- Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
- FAS deficiency
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autoimmune disorders, most of which damage the blood cells; some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues. Other signs and symptoms may include skin rashes or panniculitis; arthritis; inflammation of blood vessels (vasculitis); mouth sores; premature ovarian failure; and the development of neurological damage. ALPS is caused by mutations in the FAS gene in about 75% of cases. It is usually inherited in an autosomal dominant manner, although some severe cases are inherited in an autosomal recessive manner. Management may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder. ALPS is categorized into several types based mainly on the genetic cause.Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals can have a variety of
Last updated: 2/15/2012
- Autoimmune lymphoproliferative syndrome. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome. Accessed 2/15/2012.
- Autoimmune Lymphoproliferative Syndrome (ALPS). NIAID. October 5, 2008; http://www.niaid.nih.gov/TOPICS/ALPS/UNDERSTANDING/Pages/whatIsAlps.aspx. Accessed 2/15/2012.
- Genetics Home Reference (GHR) contains information on Autoimmune lymphoproliferative syndrome. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune lymphoproliferative syndrome. Click on the link to view a sample search on this topic.