Skip Navigation
Skip Website Tools

Volunteer for PIDD button
You can help researchers imrprove public health by volunteering for NIAID clinical studies.

Primary Immune Deficiency Diseases

Skip Content Marketing
  • Share this:
  • submit to facebook
  • Tweet it
  • submit to reddit
  • submit to StumbleUpon
  • submit to Google +

X-Linked Lymphoproliferative Disease (XLP)

On this page:

What is XLP?

XLP affects male children and is characterized by a life-long vulnerability to Epstein-Barr virus (EBV), a type of herpesvirus that affects approximately 95 percent of U.S. adults and usually does not cause any symptoms other than a brief infection or mononucleosis. Boys with XLP, however, can have severe reactions to EBV infections.

back to top

Causes

XLP is associated with mutations in a gene called SH2DIA located on the X chromosome. These mutations cause defects in T- and B-cell interactions, which generate abnormal immune responses to EBV.

back to top

Signs and symptoms

Boys with XLP are healthy until they are exposed to EBV. Then, they can become seriously ill and experience swollen lymph nodes, enlarged liver and spleen, hepatitis, and lymphoma.

back to top

Diagnosis

XLP can be diagnosed based on a hyperactive response to viral infection such as severe mononucleosis or by a blood test showing low antibodies in the blood.

back to top

Treatment

Immunoglobulin (antibody) replacement therapy can be used to treat XLP but will not protect a child against EBV infection. Bone marrow or umbilical cord blood transplantation can effectively treat XLP.

back to top

Last Updated October 20, 2010

Last Reviewed October 15, 2010