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Novel Genetic Disorders of the Immune System

NCT02257892 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-04-24

No results posted yet for this study

Summary

Background:

\- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly.

Objectives:

\- To evaluate people with certain types of immune system disorders.

Eligibility:

\- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study.

Design:

* Researchers will review participants medical records.
* Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping.
* Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed.
* Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm.
* Researchers may recommend medicines, but no treatments are being studied.
* Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.

Conditions

  • PI3KCD
  • CTLA4
  • STAT3GOF
  • MAGT1

Sponsors & Collaborators

  • National Institute of Allergy and Infectious Diseases (NIAID)

    lead NIH

Principal Investigators

  • V. Koneti Rao, M.D. · National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility

Min Age
3 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-10-22
Primary Completion
2026-08-30
Completion
2026-08-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02257892 on ClinicalTrials.gov