Detection and Characterization of Infections and Infection Susceptibility

Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility

NCT00404560•National Institute of Allergy and Infectious Diseases (NIAID)

Summary

This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders. This is a 2 visit screening study and patients determined to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow up study. This study does not cover the cost of the first visit to NIH for travel or lodgings but does cover the subsequent visit if there is one. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2. Patients known to have or suspected of having increased susceptibility to infections and their blood relatives may be eligible for this study, at the discretion of the principal investigator. Patients and family members may undergo the following procedures: * Personal and family medical history. * Physical examination and blood and urine tests. * Studies of breathing function (pulmonary function testing) * Dental examination. * Eye examination. * Genetic Testing * Stored specimens for future analysis * Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies. In addition, patients will be asked to obtain permission for investigators to obtain their medical records, previous test results, or radiographic studies prior to the first visit. Patients will be asked to undergo imaging studies, such as a chest X-ray, CT scan or MRI scan.

Detailed Description

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 25 years.

Eligibility

Age

0 - 100 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•PATIENTS:
•Patients known to have, or suspected of having an infection susceptibility and their healthy blood relatives will be eligible for enrollment.
•Participants must be over 1 month of age. There will be no limit as to sex, race or disability.
•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.
•The participant or the participant'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.
•Patients and relatives must agree to have blood and tissue stored for future studies of the immune system and/or other medical conditions.
•Patients and relatives may be concurrently enrolled on other protocols as long as the Principal Investigator is informed.
•The patient must be enrolled on this protocol to have relatives enrolled.
•The patient and patient relative cohorts will include the following special populations:
•Children: Children are included in this study because immune defects may present in early childhood, and early diagnosis or characterization may benefit subjects. Children who do not meet the age and weight criteria for care at the Clinical Center, may have sample collection only.
+1 more criteria

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.
•3. Pregnancy

Locations (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Key Dates

Start Date

January 2, 2007

Last Updated

February 17, 2026

Enrollment

2,000

ESTIMATED participants

Conditions

Immune Deficiencies

Contacts

Carla D Williams, R.N.

CONTACT

(301) 443-9460 carla.williams@nih.gov

Steven M Holland, M.D.

CONTACT

(301) 402-7684 sholland@mail.nih.gov

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: February 17, 2026Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

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