ImmunodeficiencyNCT04408950
Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects
An observational study of Immunodeficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: The immune system defends the body against disease. It has many different parts spread out in the body, including in the blood and skin. To learn more about it, researchers want to study samples from people with healthy immune systems and people with conditions that affect how the immune system works. Read more about this study
- Who is it for?
- Ages 2 to 120 years
- Conditions the study is for
- Immunodeficiency
- How many people
- 19 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Nov 2020to 27 Jan 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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 2 to 120 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Study participants will be selected or referred to the protocol from other NIH groups whose patients have an uncharacterized immune defect. Unaffected biological relatives of these participants may also be recruited.
Who may be able to join
- Aged greater than or equal to 2 years.
- Meets 1 of the following criteria:
- Patient with a suspected or known/molecularly defined but incompletely characterized immune disorder (as determined by a referring NIH study staff member) AND meeting at least one of the following:
- within 1 year of screening, abnormal immune function demonstrated by at least one laboratory test result outside the normal range
- history of severe or atypical infection, immune dysregulation (defined as autoimmunity, lymphoproliferation, or HLH), or autoinflammatory symptoms (defined as episodic fever often associated with dermatitis, gastrointestinal symptoms, and arthropathy).
- Biological unaffected relative of an individual meeting criterion 2a but who does not meet criterion 2a himself/herself. Unaffected relatives may be mother, father, siblings, children, grandparents, aunts, uncles, or first cousins to the individual.
Show all 9Show fewer
- Willing to allow storage of samples and data for future research.
- For patients, currently or previously enrolled on an NIH protocol that performs WES or WGS and that allows sharing of sequence data.
- For unaffected relatives, able to provide informed consent.
Who cannot join
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency or dysregulation (e.g., HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Pregnancy.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Background:
The immune system defends the body against disease. It has many different parts spread out in
Read more
the body, including in the blood and skin. To learn more about it, researchers want to study samples from people with healthy immune systems and people with conditions that affect how the immune system works.
Objective:
To learn about how the different parts of the immune system come together to make a whole.
Eligibility:
People age 2 and older who have a condition that affects the immune system or have a family member with such a condition.
Design:
Participants will be screened with medical and medicine review. Other lab tests may also be reviewed. Some participants will take a pregnancy test.
Participants will give blood samples. They may also give saliva, stool, and urine samples.
A sterile cotton swab may be rubbed over their skin or inside the cheek or nose to collect cells.
If participants have samples collected as part of their regular medical care, their doctor may be asked to send parts of the samples that otherwise would be thrown away. These samples may be from biopsies, endoscopies, or other procedures.
Some participants may have optional skin punch biopsies. For this, their skin is numbed. Then a tool removes 1 or 2 small pieces of skin from the forearm or thigh.
Participants medical records will be checked to see if they have any changes in their health over time. If they have a study visit, they may talk about their medical history and have a physical exam.
Participation lasts 5 years....
Read the detailed description
Immunological disorders predispose affected individuals to a myriad of complications, including infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses, and malignancy. Advances in genetic testing have propelled the discovery of the genetic underpinnings of numerous immunodeficiencies. However, a more complete picture of the immune system is needed to better characterize patients that present with the signs and symptoms of immunodeficiency or immune dysregulation in whom there is no identifiable genetic diagnosis. Many of our diagnostic tools, such as characterization of cell subset frequencies, look at only one parameter in the immune system, which is typically insufficient to capture the system s complexity. Systems immunology is a field of research aimed to identify and understand how the different components of the immune system work together in a coordinated manner to achieve its functions, such as protecting against pathogens and mounting effective responses after vaccination. The goal of this study is to collect patient samples to more deeply phenotype these individuals at the molecular and cellular levels using novel technologies in order to generate hypotheses regarding disease etiologies and mechanisms in subjects with an immune disorder without complete characterization or clear genetic etiology. We also aim to validate a specific observation seen in a previous study of patients with known monogenic immunological disorders. In the long-term, hypotheses generated in this study that address clinically significant, actionable questions will be pursued as separate investigations.
This hypothesis-generating sample collection study will recruit patients with unknown or incompletely characterized immune defects and their unaffected relatives. Under this protocol, samples will be collected at the NIH Clinical Center or mailed in for analysis using systems biology approaches to generate hypotheses regarding the potential etiologies and mechanisms of these immune defects. Initially, all subjects will give a blood sample and may give additional samples including saliva, stool, and skin punch biopsies. Subjects will be enrolled for 5 years and may be asked to give additional samples based on scientific need or changes in clinical status. Findings relevant to subjects health and medical care will be returned to them and referring healthcare providers.
- Conditions
- Immunodeficiency
- Keywords
- Immunological Disorders, Monogenic, Systems Immunology, Phenotype, Hypothesis Generating, Natural History
- Medical subject headings
- Immunologic Deficiency Syndromes
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 |
|---|---|---|
| Patients with uncharacterized immune defects | Patients with uncharacterized immune defects | |
| Unaffected biological relatives | Unaffected biological relatives |
What is being measured
The primary outcome is the main question the study is designed to answer.
CBC with differential, lymphocyte phenotyping, and whole blood RNA expression data analyzed in individuals with unknown or incompletely characterized immune defects.
CBC with differential, lymphocyte phenotyping, and whole blood RNA expression data analyzed in individuals with unknown or incompletely characterized immune defects.
Measured: Baseline
Secondary outcomes (1)
CBC with differential and lymphocyte phenotyping in individuals with unknown or incompletely characterized immunological defects compared with age- and gender-matched healthy control
CBC with differential and lymphocyte phenotyping in individuals with unknown or incompletely characterized immunological defects compared with age- and gender-matched healthy control
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jun 2020
- Study start12 Nov 2020
- Primary completion27 Jan 2025
- Study completion27 Jan 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ImmunodeficiencyStudies 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
- 19 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Irini Sereti, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04408950
- Sponsor's protocol ID
- 200084
- Other IDs
- 20-I-0084
- Status last verified
- 18 Aug 2026
- First submitted
- 29 May 2020
- Last updated
- 20 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects
- ClinicalTrials.gov ID
- NCT04408950
- Acronym / sponsor ID
- 200084
- Conditions
- Immunodeficiency
- Keywords
- Immunological Disorders, Monogenic, Systems Immunology, Phenotype, Hypothesis Generating, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 19 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 12 Nov 2020 (actual)
- Primary completion
- 27 Jan 2025 (actual)
- Study completion
- 27 Jan 2025 (actual)
- First posted
- 1 Jun 2020 (actual)
- 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.
Background:
The immune system defends the body against disease. It has many different parts spread out in
the body, including in the blood and skin. To learn more about it, researchers want to study samples from people with healthy immune systems and people with conditions that affect how the immune system works.
Objective:
To learn about how the different parts of the immune system come together to make a whole.
Eligibility:
People age 2 and older who have a condition that affects the immune system or have a family member with such a condition.
Design:
Participants will be screened with medical and medicine review. Other lab tests may also be reviewed. Some participants will take a pregnancy test.
Participants will give blood samples. They may also give saliva, stool, and urine samples.
A sterile cotton swab may be rubbed over their skin or inside the cheek or nose to collect cells.
If participants have samples collected as part of their regular medical care, their doctor may be asked to send parts of the samples that otherwise would be thrown away. These samples may be from biopsies, endoscopies, or other procedures.
Some participants may have optional skin punch biopsies. For this, their skin is numbed. Then a tool removes 1 or 2 small pieces of skin from the forearm or thigh.
Participants medical records will be checked to see if they have any changes in their health over time. If they have a study visit, they may talk about their medical history and have a physical exam.
Participation lasts 5 years....
Detailed description
Immunological disorders predispose affected individuals to a myriad of complications, including infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses, and malignancy. Advances in genetic testing have propelled the discovery of the genetic underpinnings of numerous immunodeficiencies. However, a more complete picture of the immune system is needed to better characterize patients that present with the signs and symptoms of immunodeficiency or immune dysregulation in whom there is no identifiable genetic diagnosis. Many of our diagnostic tools, such as characterization of cell subset frequencies, look at only one parameter in the immune system, which is typically insufficient to capture the system s complexity. Systems immunology is a field of research aimed to identify and understand how the different components of the immune system work together in a coordinated manner to achieve its functions, such as protecting against pathogens and mounting effective responses after vaccination. The goal of this study is to collect patient samples to more deeply phenotype these individuals at the molecular and cellular levels using novel technologies in order to generate hypotheses regarding disease etiologies and mechanisms in subjects with an immune disorder without complete characterization or clear genetic etiology. We also aim to validate a specific observation seen in a previous study of patients with known monogenic immunological disorders. In the long-term, hypotheses generated in this study that address clinically significant, actionable questions will be pursued as separate investigations.
This hypothesis-generating sample collection study will recruit patients with unknown or incompletely characterized immune defects and their unaffected relatives. Under this protocol, samples will be collected at the NIH Clinical Center or mailed in for analysis using systems biology approaches to generate hypotheses regarding the potential etiologies and mechanisms of these immune defects. Initially, all subjects will give a blood sample and may give additional samples including saliva, stool, and skin punch biopsies. Subjects will be enrolled for 5 years and may be asked to give additional samples based on scientific need or changes in clinical status. Findings relevant to subjects health and medical care will be returned to them and referring healthcare providers.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with uncharacterized immune defects | – | –Patients with uncharacterized immune defects |
| Unaffected biological relatives | – | –Unaffected biological relatives |
Who may qualify
- Ages
- 2 to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study participants will be selected or referred to the protocol from other NIH groups whose patients have an uncharacterized immune defect. Unaffected biological relatives of these participants may also be recruited.
Key inclusion criteria (9 listed)
Key exclusion criteria (4 listed)
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency or dysregulation (e.g., HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Pregnancy.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
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
CBC with differential, lymphocyte phenotyping, and whole blood RNA expression data analyzed in individuals with unknown or incompletely characterized immune defects.
Time frame: Baseline
CBC with differential, lymphocyte phenotyping, and whole blood RNA expression data analyzed in individuals with unknown or incompletely characterized immune defects.
1 secondary outcome
CBC with differential and lymphocyte phenotyping in individuals with unknown or incompletely characterized immunological defects compared with age- and gender-matched healthy control
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Aug 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Irini Sereti, 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 Immunodeficiency, 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 9 inclusion and 4 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: finished, as of the sponsor's last update on 20 Aug 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CBC with differential, lymphocyte phenotyping, and whole blood RNA expression data analyzed in individuals with unknown or incompletely characterized immune defects. (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Aug 2026.