Protocol Number: 99-AR-0004

Title:

Molecular Basis of Primary Immunodeficiencies

Number:

99-AR-0004

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.

Sponsoring Institute:

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

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility 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.

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).

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

Contact(s):

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

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/30/2009