Detection and Characterization of Infections and Infection Susceptibility
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.
Chronic Granulomatous Disease
Genetic Immunological Deficiencies
Hyperimmunoglobulin-E Recurrent Infection Syndrome
Unknown Immune Deficiency
GATA2 Deficiency (MonoMAC),
Nontuberculous Mycobacterial Infections
Hyper IgE (Job s) Syndrome
Leukocyte Adhesion Deficiency
Susceptibility to Disseminated Infections
Primary Immune Deficiency Disease (PIDD)
|Study Design:||Time Perspective: Retrospective|
|Official Title:||Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility|
- The primary endpoint of this study will be determination of a discretediagnosis of an infecting agent, an underlying susceptibility trait, or both. [ Time Frame: Within 2 visits ] [ Designated as safety issue: No ]
|Study Start Date:||November 2006|
Please refer to this study by its ClinicalTrials.gov identifier: NCT00404560
|Contact: Cathleen Frein, R.N.||(301) firstname.lastname@example.org|
|Contact: Steven M Holland, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Steven M Holland, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|