Detection and Characterization of Infections and Infection Susceptibility
Trial Parameters
Eligibility Fast-Check
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Brief 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.
Eligibility Criteria
* 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/LAR 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