Detection and Characterization of Infections and Infection Susceptibility

This screening study is designed to evaluate patients with suspected or identified recurrent
or unusual infections and their family members for clinical and in vitro correlates of
exposure and susceptibility. It will allow for up to 2 visits to obtain blood, urine, saliva,
stool, skin biopsy, or wound drainage from such patients or their family members for research
studies related to understanding the nature of the infection as well as the genetic and
biochemical bases of these diseases. Patients determined by initial evaluation to be of
interest for additional study or treatment will be asked to provide consent for enrollment
into an appropriate NIH follow-up study. The present study will enroll up to 2000 patients
and family members over the next 15 years.

- INCLUSION CRITERIA:

PATIENTS:

1. Patients known to have, or suspected of having an infection susceptibility will be
eligible for enrollment.

2. Patients with known or suspected infections will also be eligible in order to identify
the microbiologic cause of the infection, identify the extent of infection, or
determine the proper course of treatment. There will be no limit as to age, sex, race
or disability.

3. Patients must have a primary physician outside of the NIH and may be required to
submit a letter from their physician that documents their relevant health history.

4. The patient or the patient's guardian will be willing and capable of providing
informed consent after initial counseling by clinical staff. Separate consent forms
for all interventional procedures will be obtained after explanation of the specific
procedure.

5. Women of childbearing potential, or who are pregnant or lactating, may be eligible.
Interventions in pregnant or lactating women will minimize as much as possible risks
to the fetus/infant but will follow state of art evaluation and therapy. Should a
woman become pregnant or suspect she may be pregnant while participating in this
study, she should inform the study staff and her primary care physician immediately.

6. Patients must agree to have blood and tissue stored for future studies of the immune
system and/or other medical conditions.

7. Patients may be concurrently enrolled on other protocols as long as the Principal
Investigator is informed.

HEALTHY BLOOD RELATIVES OF PATIENTS:

1. Healthy blood relatives of patients known to have or suspected of having an infection
susceptibility will be eligible for enrollment only if they have a sick relative who
is enrolled on this protocol as a patient.

2. There will be no limit as age, sex, race or disability.

3. Relatives or the minor relative's guardian must be willing and capable of providing
informed consent after initial counseling by clinical staff.

4. Participating relatives agree to have blood stored for future studies of the immune
system and/or other medical conditions.

EXCLUSION CRITERIA:

1. A well understood acquired abnormality which leads to infection susceptibility, such
as HIV, cytotoxic chemotherapy, or active malignancy may be adequate explanation for
the infection diathesis. These may be grounds for exclusion if, in the opinion of the
investigators, the presence of such disease process interferes significantly with
evaluation (applicable to patients and their blood relatives).

2. Severe or uncommon infections or syndromes often require highly specialized teams and
institutions. Some referred cases will not be able to be handled appropriately at the
NIH and may be deemed ineligible for admission, as determined by the Principal
Investigator.