Scientists hunt for genetic clues behind rare, Life-Threatening EBV disease

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* ELIGIBILITY CRITERIA CAEBV PATIENTS Study size: up to 150 patients Sex distribution: male and female Age range: 1 year old and above Patients with known or suspected 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; therefore, we will enroll patients who are 1 year of age and older. However, children under the age of 3 years old will be enrolled as samples- only participants and not be evaluated at the Clinical Center. Patient recruitment is irrespective of racial and ethnic group or sex. 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 as a primary EBV infection, or associated with positive EBV-specific antibody titers (IgG-VCA, ; EA or EBNA) 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 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. RELATIVES OF CAEBV PATIENTS: Study size: up to 150 relatives of CAEBV patients Age range: 3 years and above To determine the genetic basis for this syndrome, the evaluation of blood, saliva and/or 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 some of the studies listed on samples from normal relatives. UNRELATED VOLUNTEERS 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 polymorphisms.