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Genetic Studies of X-linked Lymphoproliferative Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00359411
Recruitment Status : Completed
First Posted : August 2, 2006
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

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.


Condition or disease
X-Linked Lymphoproliferative Disease Lymphoproliferative Disease Genetic Diseases, X-Linked

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.

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Study Type : Observational
Actual Enrollment : 12 participants
Official Title: Genetic Studies of the X-Linked Lymphoproliferative Disease
Study Start Date : May 22, 1996
Study Completion Date : February 1, 2010

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00359411

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Layout table for additonal information Identifier: NCT00359411    
Other Study ID Numbers: 960085
First Posted: August 2, 2006    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: February 1, 2010
Keywords provided by National Institutes of Health Clinical Center (CC):
Epstein-Barr Virus
B-Cell Lymphoma
Herpes Virus
Infectious Mononucleosis
Additional relevant MeSH terms:
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Lymphoproliferative Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lymphatic Diseases
Immunoproliferative Disorders
Immune System Diseases