Detection and Characterization of Infections and Infection Susceptibility

Conditions

• Immune Deficiencies

Eligibility Criteria

Sex

ALL

Age

1 Month - 100 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jan 2, 2007

Status verified

Mar 2026

Study Design

Enrollment

2,000 participants (estimated)

Arms

• Arm: healthy blood relatives
  relatives not ill with a known or suspected infection susceptibility syndrome
• Arm: Patients
  patients who either have, or are suspected of having, an infection or infection susceptibility in order to further characterize such conditions

Primary Outcome Measure

determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both. [ Time Frame: upon diagnosis or after the second visit ]

Central Contacts

• Carla D Williams, R.N.
  (301) 443-9460
  [email protected]
• Steven M Holland, M.D.
  (301) 402-7684
  [email protected]

Locations (1)

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