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

Recruiting now

Conditions studied: Primary Immune Deficiency

In brief

This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections. Normally, the body keeps a precise balance in which lymphocyte growth is matched by lymphocyte death. People with constantly enlarged lymph nodes or spleen, along with autoimmune disease, immunodeficiency, lymphoma, or other immune problems affecting lymphocytes may have an abnormality of the immune system in the cell growth and cell death processes that regulate lymphocyte homeostasis. Patients who have, or are suspected of having, an inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome may be eligible for this study. Relatives of patients are also included. Participants' (patients and relatives) medical records are reviewed and blood samples are drawn for studies to identify genes involved in immune disorders. Tissues that have been removed from patients for medical reasons, such as biopsied tissues, may be examined for tissue and DNA studies. Relatives are studied to determine if some of them may have a very mild form of lymphocyte homeostasis disorder. Patients who have an immune problem that the researchers wish to study further will be invited to donate additional blood samples at irregular intervals (at least once a year) and to provide an update of their medical records at the same time.

Key facts

Study ID

NCT00246857

Run by

National Institute of Allergy and Infectious Diseases (NIAID)

People needed

5000

Starts

2007-02-12

Last updated by the study team

2026-08-07

Who can join

Age: 0 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• 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 is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
• University of Michigan — Ann Arbor, Michigan, United States (enrolling)
• Ankara Medical University — Ankara, Turkey (Türkiye) (enrolling)
• Gazi University — Ankara, Turkey (Türkiye) (enrolling)
• Hacettepe University — Ankara, Turkey (Türkiye) (enrolling)
• Marmara University — Istanbul, Turkey (Türkiye) (enrolling)
• Sureyyapasa Chest Diseases and Chest Surgery Training and Research Hospital — Istanbul, Turkey (Türkiye) (enrolling)
• Necemttin Erbakan University — Konya, Turkey (Türkiye) (enrolling)

Full record on ClinicalTrials.gov

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