Genetic Studies of X-linked Lymphoproliferative Disease
| Status: | Completed |
|---|---|
| Conditions: | Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | May 1996 |
| End Date: | February 2010 |
Genetic Studies of the X-Linked Lymphoproliferative Disease
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.
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.
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.
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.
- INCLUSION 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
and
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.
EXCLUSION CRITERIA:
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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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