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

Status: Recruiting
Location: See all (7) locations...
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 month
Maximum Age: 100
Healthy Volunteers: f
View:

• 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Michigan
University of Michigan
RECRUITING
Ann Arbor
Other Locations
Turkey
Ankara Medical University
RECRUITING
Ankara
Gazi University
RECRUITING
Ankara
Hacettepe University
RECRUITING
Ankara
Marmara University
RECRUITING
Istanbul
Necemttin Erbakan University
RECRUITING
Konya
Contact Information
Primary
Helen C Su, M.D.
hsu@mail.nih.gov
(301) 451-8783
Time Frame
Start Date: 2007-02-12
Participants
Target number of participants: 5000
Treatments
patients referred by physician with a suspected inherited immune deficiency
patients referred by physician with a suspected inherited immune deficiency
Authors
Michael J Lenardo
Related Therapeutic Areas
Sponsors
Leads: National Institute of Allergy and Infectious Diseases (NIAID)

This content was sourced from clinicaltrials.gov