Genetic Basis of Primary Immunodeficiencies

Stopped early

Conditions studied: Immunologic Deficiency Syndrome

In brief

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.

Key facts

Study ID

NCT00001788

Run by

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

People needed

119

Starts

2011-08-21

Expected to finish

2020-07-16

Last updated by the study team

2021-05-27

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Inability to provide informed consent.
• A presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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