Detection and Characterization of Host Defense Defects

Condition(s) targeted: Immunologic Deficiency Syndrome; Infection

Phase: N/A

Status: Recruiting

Sponsored by: National Institute of Allergy and Infectious Diseases (NIAID)

Overall contact:
Patient Recruitment and Public Liaison Office, Phone: (800) 411-1222, Email: prpl@mail.cc.nih.gov

This study will: 1) determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections); and 2) try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections.

Patients with chronic granulomatous disease (CGD), hyper immunoglobulin-E recurrent infection syndrome (HIE or Job's syndrome), chronic and cyclic neutropenia, Chediak-Higashi syndrome (CHS), leukocyte adhesion deficiency (LAD), and disseminated mycobacterial infections, and their family members, may be eligible for this study. Normal volunteers between the 18 and 70 years of age will also be enrolled.

All participants will donate 1 to 3 ounces (2 to 6 tablespoons) of blood at a time, but no more than 1 pint (32 tablespoons) for adults and one-half teaspoon per pound of body weight for children over a 6-week period. They will also have DNA studies to try to identify genetic factors related to inherited immune disorders. In addition,

- Patients will have a personal and family medical history, physical examination and

other procedures, which may include various blood tests; urinalysis; saliva collection; imaging studies such as chest X-ray, computed tomography (CT) or magnetic resonance imaging (MRI); and lung function studies, dental examination or eye examinations, if medically indicated. Patients who have draining wounds will have fluid collected from these wounds for biochemical study. Tissues removed as part of medical care, such as pieces of lung, liver, or teeth, or biopsies of these tissues will be studied. Patients who have an immune problem that investigators wish to study further will be asked to return to NIH for follow-up visits at irregular intervals, but at least every 6 months. The visits will include an updated medical history, examination directed at the particular medical problem related to the immune disorder, follow-up of abnormal tests or treatment, and collection of blood, saliva, urine, or wound fluid for study. Patients with a severe bacterial infection may receive treatment with a drug called meropenem, given at a maximum dose of up to 2 grams every 8 hours.

- Family members will have a medical history, saliva or urine collection, and chest X-ray

or other imaging study, if medically indicated.

- Normal volunteers who have had tissue biopsies or pieces of tissue removed as part of

medical care, such as pieces of lung, liver, or teeth, will have these tissues studied.

Official title: Detection and Characterization of Host Defense Defects

Study design: N/A

Detailed description: This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and in vitro correlates of immune abnormalities. It will also allow long term follow up of patients with host defense defects and permit us to periodically obtain blood, urine, saliva, or wound drainage from such patients or their family members for medically indicated purposes and research studies related to understanding the genetic and biochemical bases of these diseases. This protocol may help provide patients and materials for the development of therapies for these diseases.

Minimum age: 18 Years. Maximum age: 70 Years. Gender(s): Both.

Criteria:

- INCLUSION CRITERIA:

Patients known to have or suspected of having an immune defect significantly or primarily involving the phagocytes will be eligible for enrollment, as well as their blood relatives. Such syndromes include but are not limited to chronic granulomatous disease (CGD), Hyper immunoglobulin-E recurrent infection syndrome (HIE or Job's syndrome), chronic and cyclic neutropenia, Chediak-Higashi syndrome (CHS), leucocyte adhesion deficiency (LAD), and disseminated mycobacterial infections. There will be no limit as age, sex, race or disability. Normal volunteers will be healthy adults between the age of 18 and 70 years and of either sex.

EXCLUSION CRITERIA:

The presence of an acquired abnormality which leads to immune defects, such as HIV, cytotoxic chemotherapy or malignancy could be grounds for possible exclusion if, in the opinion of the investigator, the presence of such disease process interfered with evaluation.

Patient Recruitment and Public Liaison Office, Phone: (800) 411-1222, Email: prpl@mail.cc.nih.gov

National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland 20892, United States; Recruiting

NIH Clinical Center Detailed Web Page

Starting date: April 1993
Last updated: August 24, 2009