Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
- Primary Immune Deficiency
At a glance
- Phase
- Phase not stated
- Study type
- Observational
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- Enrolment target
- 5,000
- Started
- 12 February 2007
- Main results due
- Not stated
- Study sites
- 8
- Registry updated
- 24 September 2026
Can you take part?
- Ages 1 month to 100 years.
- Open to any sex.
- You need the condition being studied — healthy volunteers are not accepted.
These are the headline rules only. Every study has a longer list, and whether you are eligible is decided by the research team at the site — never by this page.
Read the full 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. 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.
What this study is about
In the sponsor’s own words, from the registry.
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.
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Study sites(8)
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
Sureyyapasa Chest Diseases and Chest Surgery Training and Research Hospital
Istanbul, Turkey (Türkiye)
Recruiting
Necemttin Erbakan University
Konya, Turkey (Türkiye)
Recruiting
Showing 8 of 8 sites. 8 of the 8 sites on this study are recruiting right now — a site can stop enrolling while the study as a whole is still open.
Source: ClinicalTrials.gov record NCT00246857. Trialion does not run this study, is not paid to refer anyone to it, and cannot enrol you. Eligibility is always decided by the research team at the site.
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