This study is NOT currently recruiting participants.
Number
99-AR-0004
Sponsoring Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Recruitment Detail
Type: Completed Study; data analyses ongoing 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)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Arthritis and Musculoskeletal and Skin Diseases
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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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. In selected cases, at the discretion of the investigators, samples for testing will be obtained from consenting adult relatives of affected 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. Additionally; patients with particularly interesting clinical presentations (e.g. adults with possible attenuated immunodeficiency) may be seen for outpatient visits at the NIH Clinical Center for evaluation. 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. We will encourage the participation of women and members of minority groups in this study. 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.
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. In selected cases, at the discretion of the investigators, samples for testing will be obtained from consenting adult relatives of affected 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.
Additionally; patients with particularly interesting clinical presentations (e.g. adults with possible attenuated immunodeficiency) may be seen for outpatient visits at the NIH Clinical Center for evaluation.
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.
We will encourage the participation of women and members of minority groups in this study.
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.
Principal Investigator
Referral Contact
For more information: