ClinicalTrials.gg
RecruitingNCT00404560Updated Nov 9, 2026

Detection and Characterization of Infections and Infection Susceptibility

An observational study in Immune Deficiencies, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Recruiting at 1 site in United States. Open to participants aged 1 Month to 100 Years. Per ClinicalTrials.gov, last updated 2026-11-09.

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

From the registry’s dates

  • Started Jan 2007; still recruiting 19 years 10 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
2,000
Ages
1 Month to 100 Years
Sex
All
01

Study summary

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.

...

Read the detailed description

This screening study is designed to evaluate patients with suspected or identified recurrent or unusual infections and their family members for clinical and in vitro correlates of exposure and susceptibility. It will allow for up to 2 visits to obtain blood, urine, saliva, stool, skin biopsy, or wound drainage from such patients or their family members for research studies related to understanding the nature of the infection as well as the genetic and biochemical bases of these diseases. Patients determined by initial evaluation to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow-up study. The present study will enroll up to 2000 patients and family members over the next 25 years.

02

Conditions studied

  • Immune Deficiencies

Keywords

  • Primary Immune Deficiency
  • Autoimmune
  • Genetic Defects
  • Immune Defects
  • Infection Susceptibility
  • Recurrent Infections
  • Immune Disorders
  • Immune Defects of Phagocytes
  • Unusual, Chronic Bacterial, Mycobacterial, and Fungal Infections
03

In context

Primary Immunodeficiency Diseases

211 studies on the registry are indexed under Primary Immunodeficiency Diseases; 51 are open to participants now.

This study's planned enrollment of 2,000 is above the median of 137 across 77 observational studies indexed under Primary Immunodeficiency Diseases.

Browse Primary Immunodeficiency Diseases studies →

Lead sponsor

National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.

Of its 405 completed or terminated interventional studies of FDA-regulated products, 302 (75%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
1 Month to 100 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

primary clinical

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

PATIENTS:

  • Patients known to have, or suspected of having an infection susceptibility and their healthy blood relatives will be eligible for enrollment.
  • Participants must be over 1 month of age. There will be no limit as to sex, race or disability.
  • Patients must have a primary physician outside of the NIH and may be required to submit a letter from their physician that documents their relevant health history.
  • The participant or the participant's guardian/LAR will be willing and capable of providing after initial counseling by clinical staff. Separate consent forms for all interventional procedures will be obtained after explanation of the specific procedure.
  • Patients and relatives must agree to have blood and tissue stored for future studies of the immune system and/or other medical conditions.
  • Patients and relatives may be concurrently enrolled on other protocols as long as the Principal Investigator is informed.
  • The patient must be enrolled on this protocol to have relatives enrolled.

The patient and patient relative cohorts will include the following special populations:

  • Children: Children are included in this study because immune defects may present in early childhood, and early diagnosis or characterization may benefit subjects. Children who do not meet the age and weight criteria for care at the Clinical Center, may have sample collection only.
  • Decisionally impaired adults: Patients and patient relatives will be able to provide informed consent for themselves or, if they lack the capacity to provide informed consent, the study team will obtain consent from the legally authorized representative. Patients with underlying immune disorders, phenomena or severe infections may sometimes present with delirium, encephalopathy, or coma and are therefore unable to provide informed consent. Excluding patients who are unable to provide consent could adversely impact patient access to medical therapy at the NIH as well as adversely impact research recruitment. Excluding patients unable to provide consent would also essentially prohibit us from evaluating patients at higher risk for adverse outcomes and therefore skew our understanding of disease. Similarly, enrolled patient subjects who lose the ability to provide ongoing consent during study participation may continue in the study. The risks and benefits of participation for subjects unable to consent should be identical to those described for less vulnerable patients.

Exclusion criteria

EXCLUSION CRITERIA:

  1. A well understood acquired abnormality which leads to infection susceptibility, such as , cytotoxic chemotherapy, or active may be adequate explanation for the infection diathesis. These may be grounds for exclusion if, in the opinion of the investigators, the presence of such disease process interferes significantly with evaluation (applicable to patients and their blood relatives).
  2. Severe or uncommon infections or syndromes often require highly specialized teams and institutions. Some referred cases will not be able to be handled appropriately at the NIH and may be deemed ineligible, as determined by the Principal Investigator.
Terms in these criteria, in plain language(4)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Autoimmune disease

A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.

Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.

HIV

The human immunodeficiency virus, which weakens the immune system.

Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.

Cancer (malignancy)

Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.

Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
2,000 participants (estimated)

Groups and cohorts

  • healthy blood relatives

    relatives not ill with a known or suspected infection susceptibility syndrome

  • Patients

    patients who either have, or are suspected of having, an infection or infection susceptibility in order to further characterize such conditions

06

What researchers measure

Primary outcomes

  1. determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both.

    patients determined to have a diagnosis or syndrome that requires further study at the NIH will be asked to provide consent for enrollment into an appropriate study for further diagnosis and/or treatment

    Time frame: upon diagnosis or after the second visit

07

Study locations

1 of 1 sites recruiting
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20892, United States
    Recruiting
    • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · Contactccopr@nih.gov · 800-411-1222
08

References and documents

Publications

  • Chien WW, Leiding JW, Hsu AP, Zalewski C, King K, Holland SM, Brewer C. Auditory and vestibular phenotypes associated with GATA3 mutation. Otol Neurotol. 2014 Apr;35(4):577-81. doi: 10.1097/MAO.0000000000000238. PubMed 24622013 ↗
  • Saijo T, Chen J, Chen SC, Rosen LB, Yi J, Sorrell TC, Bennett JE, Holland SM, Browne SK, Kwon-Chung KJ. Anti-granulocyte-macrophage colony-stimulating factor autoantibodies are a risk factor for central nervous system infection by Cryptococcus gattii in otherwise immunocompetent patients. mBio. 2014 Mar 18;5(2):e00912-14. doi: 10.1128/mBio.00912-14. PubMed 24643864 ↗
  • Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13. PubMed 24227816 ↗
  • West RR, Hsu AP, Holland SM, Cuellar-Rodriguez J, Hickstein DD. Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica. 2014 Feb;99(2):276-81. doi: 10.3324/haematol.2013.090217. Epub 2013 Sep 27. PubMed 24077845 ↗

Individual participant data

Plan to share: Yes — We will share human data generated in this study for future research as follows:@@@-Identified data in the Biomedical Translational Research Information System (BTRIS, automatic for activities in the NIH CC).@@@-De-identified or identified data with approved outside collaborators under appropriate agreements.@@@-Data sharing may be complicated or limited in certain cases by contractual obligations or agreements with outside collaborators, such as cooperative research and development agreements, clinical trial agreements, other restraints, etc.

Supporting information: Statistical analysis plan

Time frame: IPD and supporting information will be available after completion of the study. No end date.

Access criteria: Data will be shared through:@@@-BTRIS (automatic for activities in the NIH CC).@@@-Approved outside collaborators under appropriate individual agreements.@@@-Publication and/or public presentations.@@@-Data might be shared before publication.@@@-The PI will review all requests for sharing data.

09

Updates

7 registry updates since Sep 25, 2026
Minor edits
Nothing that changes what the study is or who can join. Edited: description
7 updates, last Nov 9, 2026
Show all 7 updates
  1. Nov 9, 2026
    Minor edits only
    + 1 other change: description
  2. Nov 5, 2026
    Minor edits only
    + 1 other change: description
  3. Oct 29, 2026
    Minor edits only
    + 1 other change: description
  4. Oct 13, 2026
    Minor edits only
    + 1 other change: description
  5. Oct 8, 2026
    Minor edits only
    + 1 other change: description
  6. Oct 2, 2026
    Minor edits only
    + 1 other change: description
  7. Sep 28, 2026
    Minor edits only
    + 1 other change: description

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT00404560
Responsible party
Sponsor
First posted
Nov 29, 2006
Start date
Jan 2, 2007
Last update
Nov 9, 2026

Study contacts

Carla D Williams, R.N.
Contact
carla.williams@nih.gov
(301) 443-9460
Steven M Holland, M.D.
Contact
sholland@mail.nih.gov
(301) 402-7684
Steven M Holland, M.D.
principal investigator · National Institute of Allergy and Infectious Diseases (NIAID)

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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