Immune DeficienciesNCT00404560
Detection and Characterization of Infections and Infection Susceptibility
An observational study of Immune Deficiencies, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 100 years
- Conditions the study is for
- Immune Deficiencies
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Jan 2007to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: primary clinical
Who may be able to join
- 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 informed consent 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.
Show all 11Show fewer
- 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, autoimmune 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.
Who cannot join
- A well understood acquired abnormality which leads to infection susceptibility, such as HIV, cytotoxic chemotherapy, or active malignancy 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).
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
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:
Read more
- 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.
- Conditions
- 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
- Medical subject headings
- Primary Immunodeficiency Diseases, Reinfection, Immune System Diseases, Mycoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: upon diagnosis or after the second visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2006 (estimated)
- Study start2 Jan 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Immune DeficienciesStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Steven M Holland, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00404560
- Sponsor's protocol ID
- 070033
- Other IDs
- 07-I-0033
- Status last verified
- 10 Jul 2026
- First submitted
- 28 Nov 2006
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
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 24622013Saijo 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 24643864Spinner 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 24227816West 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
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
- ClinicalTrials.gov ID
- NCT00404560
- Acronym / sponsor ID
- 070033
- Conditions
- Immune Deficiencies
- Keywords
- Primary Immune Deficiency, Autoimmune, Genetic Defects, Immune Defects, Infection Susceptibility, Recurrent Infections, Immune Disorders, Immune Defects of Phagocytes
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 2 Jan 2007 (actual)
- First posted
- 29 Nov 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 1 month to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- primary clinical
Key inclusion criteria (11 listed)
- 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 informed consent 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.
Key exclusion criteria (2 listed)
- A well understood acquired abnormality which leads to infection susceptibility, such as HIV, cytotoxic chemotherapy, or active malignancy 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).
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both.
Time frame: upon diagnosis or after the second visit
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Background: PubMed 24622013Chien 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.
- Background: PubMed 24643864Saijo 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.
- Background: PubMed 24227816Spinner 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.
- Derived from this study: PubMed 24077845West 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Steven M Holland, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Immune Deficiencies, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Carla D Williams, R.N. ((301) 443-9460, carla.williams@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00404560, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.