Recruiting

Genetic Analysis

Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Code:

NCT00001467

Conditions

DOK 8

STAT1

GATA2

Immunodeficiency

STAT3

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children. The immune system is the body s defense system. Some immune deficiencies impair a person s ability to fight infections; others render a person susceptible to allergies, or to autoimmune diseases such as lupus or arthritis, in which the immune cells (white blood cells) attack and destroy the body s own tissues.

Patients with immune disorders known or suspected to have a genetic basis and their family members may enroll in this study. Eligibility will be determined by a review of the patient s medical records and family medical history. Participants will provide a small blood sample for genetic (DNA) and white blood cell analysis. Gene samples (but not white blood cells) may also be obtained by mouth brushing or skin biopsy. For the mouth brushing, a small brush is rubbed against the inside of the cheeks for 1 minute to wipe off some cells. For the skin biopsy, a small circle of skin (about 1/8 inch) is removed under local anesthetic. Pregnant women may be asked to provide a fetal sample (amniotic fluid cells or chorionic villus sample). All samples will be used for immune or genetic studies of the family s immune disorder.

If test results show a specific genetic variation responsible for the family s immune disorder, a report will be sent to the patient s doctor or genetic counselor, who will discuss the implications for the family. NIH researchers and genetic counselors will also be available to explain results and answer questions. Information will not be available in the case of disorders that cannot yet be linked to a specific genetic abnormality.

Information from this study will increase knowledge about the immune system and what causes immune deficiencies. Participants may also learn the underlying cause of an immune disorder that affects them or someone in their family information may be useful in guiding treatment and in making decisions regarding family planning....

Conditions

DOK 8

STAT1

GATA2

Immunodeficiency

STAT3

Study ID

NCT00001467

Start date

Jun 6, 1995

Status verified date

Sep 2, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION / EXCLUSION CRITERIA:

Probands and their blood relatives, of any age, gender, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients or family member enrollees.

Fetal samples may be studied in selected cases where benefit, such as expedited postnatal treatment, could be realized.

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Blood relatives

blood related family members of proband

Proband

person initially ill/studied/diagnosed

Primary outcome measure

  • To search for modifiers of phenotype in subjects with disorders of the immune system in which penetrance and expressivity are variable. [ Time Frame: blood draw and testing once or can be repeated ]
  • genetic testing for known or suspected mutations related to primary immune deficiencies [ Time Frame: blood draw and testing once or can be repeated ]

Central Contacts and Locations

Central contacts

Steven M Holland, M.D.

(301) 402-7684sholland@mail.nih.gov

Gulbu Uzel, M.D.

(301) 451-9035guzel@niaid.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Last update posted

Sep 4, 2026

Last verified

Sep 2, 2026

Keywords

  • Primary Immunodeficiency Disorders
  • Immunologic Disorders
  • Mutation
  • Genetic Analysis
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Allergy and Infectious Diseases (NIAID) on 2026-09-04.