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Autoimmune lymphoproliferative syndrome

Other Names for this Disease
  • ALPS
  • Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
  • Canale-Smith syndrome
  • FAS deficiency
More Names
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Overview


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 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.[1] 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.[2]


References

  1. Autoimmune lymphoproliferative syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome. Accessed February 15, 2012.
  2. Autoimmune Lymphoproliferative Syndrome (ALPS). NIAID. http://www.niaid.nih.gov/TOPICS/ALPS/UNDERSTANDING/Pages/whatIsAlps.aspx. Accessed February 15, 2012.
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General Information

  • Genetics Home Reference (GHR) contains information on Autoimmune lymphoproliferative syndrome. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Institute of Allergy and Infectious Diseases (NIAID) supports scientists developing better ways to diagnose, treat, and prevent the many infectious, immunologic, and allergic diseases that afflict people worldwide. Click on the link to view information on this topic. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autoimmune lymphoproliferative syndrome. Click on the link to go to OMIM and review these resources.