Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects

NCT04408950 | Completed

• 2 other identifiers: 20008420-I-0084
• Study Type: observational
• Target: 19
• Locations: 1 country
• Sites: 1

Brief 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. 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....

Conditions

Immunodeficiency

Keywords

Immunological Disorders; Monogenic; Systems Immunology; Phenotype; Hypothesis Generating; Natural History

Outcome Measures

Primary Outcomes (1)

• 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.

  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

  Baseline

Study Arms (2)

Patients with uncharacterized immune defects

Patients with uncharacterized immune defects

Unaffected biological relatives

Unaffected biological relatives

Eligibility Criteria

• Age: 2 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• Aged greater than or equal to 2 years.
• Meets 1 of the following criteria:
• a. 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:
• i. within 1 year of screening, abnormal immune function demonstrated by at least one laboratory test result outside the normal range
• ii. 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).
• b. 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.
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Immunologic Deficiency Syndromes

Condition Hierarchy (Ancestors)

Immune System Diseases

Study Officials

• Irini Sereti, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 29, 2020
• First Posted: June 1, 2020
• Study Start: November 12, 2020
• Primary Completion: January 27, 2025
• Study Completion: January 27, 2025
• Last Updated: November 19, 2025

Record last verified: 2025-11-17

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)