Bethesda, Maryland 20892


Purpose:

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.


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.


Criteria:

- INCLUSION CRITERIA: Samples from patients with known or suspected primary immunodeficiencies, including those treated with stem cell transplants or gene correction therapy, and their families will be accepted worldwide primarily from tertiary care centers that treat patients with such immunodeficiencies. Such patients will have documented evidence of either opportunistic infection, recurrent infection, or unusually severe responses to infectious agents that cause mild illness in unaffected individuals. Either patient-derived B cell lines or primary blood samples will be accepted although in some cases buccal swabs will also be accepted. Blood samples may be obtained from unaffected children. Infants with SCID or other primary immunodeficiency will not be seen; their physicians will care them for and only clinical material will be sent on such patients. Medically stable patients with mild to moderate immunodeficiency may be seen at the NIH. EXCLUSION CRITERIA: 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.


NCT ID:

NCT00001788


Primary Contact:

Principal Investigator
Eric P Hanson, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Richard M Siegel, M.D.
Phone: (301) 496-3761
Email: siegelr@mail.nih.gov


Backup Contact:

Email: hansonep@mail.nih.gov
Eric P Hanson, M.D.
Phone: (301) 402-6776


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: September 21, 2017

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