NCT00001355

Detection and Characterization of Host Defense Defects

Recruiting now Last updated 15 April 2026

What this trial tests

trial in Immune Defects in 3,600 participants. Currently enrolling.

Timeline

1 September 1993

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	3,600
Start date	1 September 1993
Sites	1 location across United States

Conditions studied

• Immune Defects — all drugs for Immune Defects →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 1 Month to 100, any sex, with Immune Defects. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and laboratory correlates of immune abnormalities. It allows long term follow up of patients with host defense defects and permits the periodic study of their 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.

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)
2. Try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections

Patients and family members may undergo the following procedures:

* 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 may have genetic testing and must be willing to have specimens stored for future research.
* 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.
* NIH does not cover the cost of the initial screening visit for travel or lodging. 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 will be asked to obtain their medical records, previous test results, or imaging studies prior to the first visit.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
   Lucas CL, Kuehn HS, Zhao F, Niemela JE, et al · · 2014 · cited 539× · PMID 24165795 · DOI 10.1038/ni.2771
2. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
   Zhang Y, Yu X, Ichikawa M, Lyons JJ, et al · · 2014 · cited 188× · PMID 24589341 · DOI 10.1016/j.jaci.2014.02.013
3. Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia.
   Burbelo PD, Browne SK, Sampaio EP, Giaccone G, et al · · 2010 · cited 123× · PMID 20716769 · DOI 10.1182/blood-2010-05-286161
4. Neutrophil swarming delays the growth of clusters of pathogenic fungi.
   Hopke A, Scherer A, Kreuzburg S, Abers MS, et al · · 2020 · cited 92× · PMID 32341348 · DOI 10.1038/s41467-020-15834-4
5. Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.
   Preite S, Cannons JL, Radtke AJ, Vujkovic-Cvijin I, et al · · 2018 · cited 86× · PMID 30127432 · DOI 10.1038/s41590-018-0182-3
6. Clonally expanded γδ T cells protect against Staphylococcus aureus skin reinfection.
   Dillen CA, Pinsker BL, Marusina AI, Merleev AA, et al · · 2018 · cited 85× · PMID 29400698 · DOI 10.1172/jci96481
7. Heme Oxygenase-1 Regulation of Matrix Metalloproteinase-1 Expression Underlies Distinct Disease Profiles in Tuberculosis.
   Andrade BB, Pavan Kumar N, Amaral EP, Riteau N, et al · · 2015 · cited 53× · PMID 26268658 · DOI 10.4049/jimmunol.1500942
8. Primary and Acquired Immunodeficiencies Associated With Severe Varicella-Zoster Virus Infections.
   Ansari R, Rosen LB, Lisco A, Gilden D, et al · · 2021 · cited 36× · PMID 32856043 · DOI 10.1093/cid/ciaa1274