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Genetic Studies of Chronic Active Epstein-Barr Virus Infection

2 Years
Open (Enrolling)
Epstein-Barr Virus Infections

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Trial Information

Genetic Studies of Chronic Active Epstein-Barr Virus Infection

Patients with chronic active Epstein-Barr virus (CAEBV) have (a) an illness that began as a
primary infection with EBV or markedly elevated titers of antibodies to EBV, (b)
histological evidence of organ disease, and (c) elevated EBV DNA levels in the blood or EBV
DNA or proteins in affected tissues. This is primarily a disease of children and young
adults. Many of these patients develop hypogammaglobulinemia or pancytopenia and death is
frequently due to opportunistic infections or B or T cell lymphoproliferative disease. The
primary goal of this study is to identify genetic mutations responsible for CAEBV. The
secondary goal of this study is to learn more about the natural history of CAEBV. Blood
samples or available tissues (e.g. previous biopsy or autopsy material) from patients with
CAEBV and their relatives will be analyzed to identify disease genes that are mutated in
this population. In addition, some of the patients will be invited to come for evaluation
at the NIH Clinical Center. At that time medically indicated studies of disease progression
will be performed. Serial virologic and immunologic studies will be performed. Eligible
relatives of patients will be studied to compare the gene(s) associated with CAEBV in
patients with the gene(s) in their relatives. Knowledge gained from this study has the
potential of providing insights into the immunologic control of EBV infections. In
addition, identification of the molecular mechanisms for CAEBV may provide insights leading
to improved treatments for this disease.

Inclusion Criteria



Study size: up to 150 patients

Sex distribution: male and female

Age range:no minimum nor maximum age

Patients known to have CAEBV and their relatives will be recruited by referrals from
health care providers. The rarity of this disease will markedly limit the number of
patients available to study.

Patient recruitment is irrespective of racial and ethnic group or gender. NIAID
investigators will be available to answer questions and discuss general aspects of CAEBV
and identified genes or modifier genes with participants or their providers.

Eligibility criteria:

To be considered having CAEBV, a patient must have:

1. a severe progressive illness that began at least 6 months ago as a primary EBV
infection, or associated with markedly elevated EBV-specific antibody titers (IgG-VCA
greater than or equal to 1:5,120; EA greater than or equal to 1:640 or EBNA less than
1:2 with other serologies positive) not otherwise explained AND

2. evidence of major organ involvement such as lymphadenitis, hemophagocytosis,
meningoencephalitis, persistent hepatitis, splenomegaly, interstitial pneumonitis,
bone marrow hypoplasia, uveitis AND

3. detection of elevated levels of EBV DNA, RNA or proteins in affected tissues OR
elevated levels of EBV DNA in the peripheral blood AND

Exclusion criteria:

(a) Any other condition that, in the opinion of the investigator, would make the patient
unsuitable for enrollment or could interfere with the patient participating in the study.


Study size: up to 150 relatives of CAEBV patients

Age range: 2 years and above

To determine the genetic basis for this syndrome, the evaluation of blood and previously
obtained tissue specimens from healthy relatives of CAEBV patients will serve as controls.
No tissue biopsies will be performed on healthy relatives. We will perform studies on
blood samples from normal relatives.


Study size: up to 300 persons

Age range: 18 years and above

Panels of anonymous blood samples will be obtained through NIH Clinical Center Blood
Transfusion Medicine to determine if identified genetic changes are mutations or

Type of Study:


Study Design:


Principal Investigator

Jeffrey I Cohen, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institute of Allergy and Infectious Diseases (NIAID)


United States: Federal Government

Study ID:




Start Date:

March 2002

Completion Date:

Related Keywords:

  • Epstein-Barr Virus Infections
  • Herpesvirus
  • Hemophagocytosis
  • Lymphoproliferative
  • Epstein-Barr
  • Mononucleosis
  • EBV
  • Chronic Active Epstein-Barr Virus
  • Virus
  • Virus Diseases
  • Epstein-Barr Virus Infections



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892