Trial record 2 of 87 for:    Chest X Ray | Open Studies | NIH, U.S. Fed

Detection and Characterization of Host Defense Defects

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by National Institutes of Health Clinical Center (CC)
University of Miami
University of South Florida
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: August 5, 2014
Last verified: July 2014

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.

Immunologic Deficiency Syndrome

Study Type: Observational
Official Title: Detection and Characterization of Host Defense Defects

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 2000
Study Start Date: April 1993
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, skin, stool and vaginal specimens 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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

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 those listed above. 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.

Subjects enrolled will be able to provide informed consent for themselves or if they lack the capacity to provide informed consent, the study team will comply with MAS 87-4.


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.

Subjects with dementia that impairs obtaining informed consent are excluded unless there is an appropriate surrogate (legal guardian or durable power of attorney who is willing to provide consent).

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001355

Contact: Cathleen Frein, R.N. (301) 402-1006
Contact: Steven M Holland, M.D. (301) 402-7684

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   
Sponsors and Collaborators
University of Miami
University of South Florida
Principal Investigator: Steven M Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
No publications provided by National Institutes of Health Clinical Center (CC)

Additional publications automatically indexed to this study by Identifier (NCT Number): Identifier: NCT00001355     History of Changes
Other Study ID Numbers: 930119, 93-I-0119
Study First Received: November 3, 1999
Last Updated: August 5, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases processed this record on August 27, 2014