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X-linked lymphoproliferative syndrome

Other Names for this Disease
  • Duncan disease
  • EBV infection, severe, susceptibility to
  • EBVS
  • Epstein Barr virus infection, familial fatal
  • Lymphoproliferative disease, X-linked
More Names
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X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that is found almost exclusively in males.  Individuals with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells.  Humans have two main types of lymphocytes, B cells and T cells, which work together to clear infections and keep the immune system in check. Individuals with XLP lack the proper regulation between B cells and T cells and are therefore unable to affectively destroy invading viruses, such as the usually harmless Epstein-Barr virus (EBV). Typically, XLP patients do not display severe symptoms of a compromised immune system until they have been exposed to EBV.  EBV infections, however, are common and can become life-threatening in people with XLP resulting in symptoms that  include fever, hepatitis, an enlarged spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other blood disorders.  XLP is caused by mutations in the SH2D1A gene which makes a protein SAP, a key regulator in immunity, as well as the XIAP gene [1] XLP is inherited in an X-linked recessive pattern.[2][3]
Last updated: 5/6/2013


  1. Benowitz, Steve. NHGRI finds "off" switch that underlies rare genetic disease affecting boys. National Human Genome Research Institue. June 25, 2012; Accessed 6/27/2012.
  2. US National Library of Medicine. X-linked lymphoproliferative disease. Genetics Home Reference. August, 2010; Accessed 7/27/2012.
  3. Filipovich A. et al. Lymphoproliferative Disease, X-Linked. GeneReviews. November 10, 2011; Accessed 7/27/2012.
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Basic Information

In Depth 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.
  • 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 X-linked lymphoproliferative syndrome. Click on the link to view a sample search on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of X-linked lymphoproliferative syndrome.
    OMIM: X-linked lymphoproliferative syndrome 1
    OMIM: X-linked lymphoproliferative syndrome 2