Genetic Studies of X-linked Lymphoproliferative Disease

Brief Title

Genetic Studies of X-linked Lymphoproliferative Disease

Official Title

Genetic Studies of the X-Linked Lymphoproliferative Disease

Brief Summary

      This study will study the effects of the gene on the X chromosome that is associated with
      X-linked lymphoproliferative disease (XLPD)-an inherited disease affecting the immune
      system-on the function of the immune system. XLPD has been linked to an abnormality in a
      specific region of the X chromosome (one of 23 chromosome pairs that contain the genes that
      determine a person's hereditary makeup). The disease may develop after infection with the
      Epstein-Barr virus (EBV). EBV affects more than 95 percent of people in the United States. It
      usually does not cause any symptoms in children. In adolescents and adults, however, EBV can
      cause infectious mononucleosis and sometimes lymphoproliferative disease, such as XLPD. In
      these diseases lymph tissues, such as lymph nodes, may become enlarged and immune function
      (infection-fighting ability) impaired. This study will compare DNA from patients with XLPD
      with that of their unaffected relatives, of patients with other lymphoproliferative diseases
      and of normal controls.

      Patients of any age with XLPD, their unaffected relatives 18 years of age and older, and
      patients with other lymphoproliferative diseases may participate in this study.

      Blood samples will be collected from all participants to study the effects of the gene on the
      X chromosome that appears to be abnormal in XLPD on the function of the immune system. In a
      6-week period, no more than 100 milliliters (about 7 tablespoons) of blood will be drawn from
      adults and no more than 1 ml (1/6 teaspoon) of blood per pound of body weight from children.
      Blood from patients with XLPD and their relatives will also be tested for HLA type (similar
      to blood type testing) and the ability of HLA-matched cells from patients and relatives to
      interact will be examined.


Detailed Description

      Males with the X-linked ymphoproliferative disease (XLPD) have a marked susceptibility to
      Epstein-Barr virus (EBV) disease. These boys develop very severe disease associated with
      infectious mononucleosis; others develop hypogammaglobulinemia or B cell lymphomas. Recent
      studies have linked the disease to a region of the X-chromosome. The purpose of this study is
      to determine the function of the gene responsible for XLPD. Blood samples or discarded
      tissues (e.g. previous biopsy or autopsy material) from patients with XLPD and their
      relatives will be analyzed to determine the precise genetic defect associated with the
      disease. Blood samples or discarded tissues from other patients with EBV-associated
      lymphoproliferative diseases and blood samples from normal individuals will be obtained to
      serve as controls. Knowledge gained from this study should provide important insights into
      the immunologic control of EBV lymphoproliferative disease associated with congenital or
      acquired immunodeficiency. In addition, identification of the molecular mechanisms for these
      diseases may provide clues to other EBV-associated diseases including nasopharyngeal
      carcinoma, Burkitt lymphoma, and Hodgkin's disease.

Study Type



X-Linked Lymphoproliferative Disease


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

May 22, 1996

Completion Date

February 1, 2010

Eligibility Criteria


        Patients known to have XLPD and their relatives will be recruited from families who have
        enrolled in a national XLPD registry.

        All racial and ethnic groups will be considered.

        To be considered having XLPD, a patient must be a male who has had:

          -  severe infectious mononucleosis, or

          -  acquired hypogammaglobulinemia following infectious mononucleosis, or

          -  nonHodgkin's lymphoma, or

          -  hyper-IgM or an IgG subclass deficiency with evidence of linkage to the DXS42 locus


        have no other known immunocompromising condition and belong to a family in which another
        related male has had one or more of the above listed phenotypes.


        Known HIV infection in any patient with XLPD or their relative (blood will not be tested
        for HIV), complicating medical or psychiatric conditions in unrelated controls.




N/A - N/A

Accepts Healthy Volunteers



, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Study Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Study Sponsor

, , 

Verification Date

February 1, 2010