Novel Genetic Disorders of the Immune System

  • End date
    Aug 30, 2024
  • participants needed
  • sponsor
    National Institute of Allergy and Infectious Diseases (NIAID)
Updated on 14 October 2022


  • 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.
  • To evaluate people with certain types of immune system disorders.
  • Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study.
  • 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.


This study is designed to evaluate patients with suspected or identified novel immune disorders, with a focus on abnormal immune homeostasis potentially due to defects in activation or apoptosis. Blood relatives of enrolled patients will also be evaluated. Affected individuals may have Mendelian gene defects involving mostly single or occasionally multiple genes. These patients may have signs and symptoms suggestive of clinically significant lymphocyte homeostasis disorders. However, some selected patients manifesting autoimmunity, autoinflammatory conditions, end-organ dysfunction, Epstein-Barr virus (EBV) and cytomegalovirus (CMV) viremia, frequent infections, allergies, or laboratory abnormalities consistent with immune defects of research interest to the Laboratory of Clinical Immunology and Microbiology may also be studied under this protocol at the discretion of the Investigators.

This protocol will facilitate the discovery of the role of genetic pathways and modes of inheritance associated with pathophysiological events leading to immune system dysregulation, particularly disorders of immune cell homeostasis. A better understanding of the genetics as well as biochemical and molecular basis of complex immune disorders could also lead to the development of novel therapeutic targets and approaches.

Patients will undergo clinical evaluations that include history and physical examinations, blood sampling, radiological exams, genetic testing, skin biopsy, and other medically indicated procedures. Genetically related family members of patients may also be screened and evaluated for clinical, in vitro, and genetic correlates of immune abnormalities. Patients and blood relatives unable or too sick to travel to NIH Clinical Center (CC) may be evaluated through mail-in blood samples. Patients and their relatives will remain enrolled on this study to observe the natural history of the disorder and obtain blood, saliva, skin biopsy, or other specimens at periodic intervals. This study aims to enroll up to a total of 500 patients and their family members.

Clinical Study IdentifierNCT02257892
SponsorNational Institute of Allergy and Infectious Diseases (NIAID)
Last Modified on14 October 2022


How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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