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

Recruitingn/aAges 1 Month - 100 YearsAllNational Institute of Allergy and Infectious Dise…
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In plain words

What the trial is, and whether it could suit you

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 i

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📋 Eligibility rules (as published)
* 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.
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What it tests

  • Not listed
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Where

8 sites
National Institutes of Health Clinical Center
Bethesda, United States
University of Michigan
Ann Arbor, United States
Ankara Medical University
Ankara, Turkey (Türkiye)
Gazi University
Ankara, Turkey (Türkiye)
Hacettepe University
Ankara, Turkey (Türkiye)
Marmara University
Istanbul, Turkey (Türkiye)
Sureyyapasa Chest Diseases and Chest Surgery Training and Research Hospital
Istanbul, Turkey (Türkiye)
Necemttin Erbakan University
Konya, Turkey (Türkiye)
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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