Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Oct 29, 2005

Keywords

ClinConnect Summary

This clinical trial is looking into the genetic and biochemical causes of certain inherited immune diseases that affect a type of white blood cell called lymphocytes, which help fight infections. In some people, the balance of lymphocyte growth and death is disrupted, leading to issues like enlarged lymph nodes or spleen, autoimmune diseases, or other immune problems. The study aims to help identify these issues, especially in patients who already have or are suspected to have these immune disorders.

If you or a family member have an inherited immune problem, or if you think you might, you could be eligible to participate. The study welcomes patients of all ages and backgrounds, as well as their blood relatives. Participants will have their medical records reviewed and provide blood samples for genetic testing. Some may also be asked to give additional blood samples over time for ongoing research. This trial offers an opportunity to better understand these conditions and potentially improve future diagnoses and treatments.

Gender

ALL

Eligibility criteria

• * 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.