Screening for genetic causes of immune diseases affecting lymphocytes

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 observational study aims to identify the biochemical and genetic causes of inherited immune diseases that disrupt lymphocyte homeostasis. It focuses on patients with conditions such as autoimmune diseases, immunodeficiencies, and lymphoproliferative disorders. Participants, including patients and their relatives, will have their medical records reviewed and blood samples collected for genetic analysis. The study seeks to enroll up to 5000 individuals over a decade to better understand the genetic underpinnings of these immune disorders.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll

patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race, or disability.

EXCLUSION CRITERIA:

Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume.

Co-enrollment guidelines: Participants may be co-enrolled in other studies including NIH protocols 05-I-0213, 93-I-0063 and 17-I-0122. Participants should inform the investigator of participation in other research studies.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting
• University of Michigan
  Ann Arbor, Michigan, United States Recruiting
• Ankara Medical University
  Ankara, Turkey (Türkiye) Recruiting
• Gazi University
  Ankara, Turkey (Türkiye) Recruiting
• Hacettepe University
  Ankara, Turkey (Türkiye) Recruiting
• Marmara University
  Istanbul, Turkey (Türkiye) Recruiting

Study contacts

• Principal investigator: Helen C Su, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Helen C Su, M.D.
• Email: hsu@mail.nih.gov
• Phone: (301) 451-8783

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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.