Genetic Basis of Primary Immunodeficiencies

Immunologic Deficiency Syndrome Clinical Trial

Official title: Molecular Basis of Primary Immunodeficiencies

Status Terminated

Clinical Trial Summary

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.

Clinical Trial Description

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. ;

Related Conditions & MeSH terms

• Immunologic Deficiency Syndrome
• Immunologic Deficiency Syndromes

• NCT number: NCT00001788
• Study type: Observational
• Source: National Institutes of Health Clinical Center (CC)
• Status: Terminated
• Start date: August 21, 2011
• Completion date: July 16, 2020