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.

Condition
Immunologic Deficiency Syndrome

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.

Genders Eligible for Study:  Both

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).

Maryland
      National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  990004; 99-AR-0004
Record last reviewed:  September 10, 2003
Last Updated:  September 10, 2003
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001788
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08