Protocol Details

Molecular Basis of Primary immunodeficiencies

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	99-AR-0004
Sponsoring Institute	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	Yes
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Cytokine; Stat; Jak; IL-12; Mutation
Recruitment Keyword(s)	Immunodeficiency
Condition(s)	Immunologic Deficiency Syndrome
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Arthritis and Musculoskeletal and Skin Diseases

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.

--Back to Top--

Eligibility

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.

Samples will not 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 (e.g., HIV infection).

--Back to Top--

Citations:

Naturally occurring primary deficiencies of the immune system

Functional diversity of helper T lymphocytes

Candotti F, Notarangelo L, Visconti R, O'Shea J Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways J Clin Invest 2002 May;109(10):1261-9

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
Eric P. Hanson, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) National Institutes of Health BG 10 RM 13C103 10 CENTER DR BETHESDA MD 20892 (301) 402-6776 hansonep@mail.nih.gov	Richard M. Siegel, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) National Institutes of Health 10 CENTER DR BG 10 RM 13C103A MSC 1930 BETHESDA MD 20892-1930 (301) 496-3761 siegelr@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001788

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov