Genetic Basis of Primary Immunodeficiencies
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|ClinicalTrials.gov Identifier: NCT00001788|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : March 29, 2018
The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others.
Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.
|Condition or disease|
|Immunologic Deficiency Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||99999999 participants|
|Official Title:||Molecular Basis of Primary Immunodeficiencies|
|Study Start Date :||October 13, 1998|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001788
|Contact: Richard M Siegel, M.D.||(301) firstname.lastname@example.org|
|Contact: Eric P Hanson, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Eric P Hanson, M.D.||National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)|