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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.

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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).


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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

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Contacts:

Principal Investigator

Referral Contact

For more information:

Eric P. Hanson, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10 RM 13C103
10 CENTER DR
BETHESDA MD 20814
(301) 402-6776
hansonep@mail.nih.gov

Richard M. Siegel, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10 RM 13C103A
10 CENTER DR
BETHESDA MD 20814
(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

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