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Genetic Basis of Primary Immunodeficiencies

NCT00001788 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 119

Last updated 2021-05-27

No results posted yet for this study

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.

Conditions

  • Immunologic Deficiency Syndrome

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • Robert A Colbert, M.D. · National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-08-21
Primary Completion
2019-07-02
Completion
2020-07-16

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001788 on ClinicalTrials.gov