Genetic analysis of immune disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to identify the genes responsible for specific immune disorders, understand the medical problems they cause, and predict the likelihood of developing these disorders and passing them on to children. Participants, including patients with known or suspected genetic immune disorders and their family members, will provide blood samples for genetic and white blood cell analysis. The study will correlate genetic mutations with clinical information to better understand the immune system's function and its role in various diseases. Healthy family members may also participate as controls.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Gulbu Uzel, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Steven M Holland, M.D.
• Email: sholland@mail.nih.gov
• Phone: (301) 402-7684

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.