Genetic Diseases, X-Linked Clinical Trial
Official title:
Genetic Studies of the X-Linked Lymphoproliferative Disease
Verified date | February 1, 2010 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 12 |
Est. completion date | February 1, 2010 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
- 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. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Institute of Allergy and Infectious Diseases (NIAID) |
United States,
Cohen JI. Epstein-Barr virus lymphoproliferative disease associated with acquired immunodeficiency. Medicine (Baltimore). 1991 Mar;70(2):137-60. Review. — View Citation
Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975 Apr 26;1(7913):935-40. — View Citation
Skare JC, Milunsky A, Byron KS, Sullivan JL. Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1987 Apr;84(7):2015-8. — View Citation
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