Molecular Basis of Primary Immunodeficiencies
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Immunologic Deficiency Syndrome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Enrollment
- 119
- Locations
- 1
- Primary Endpoint
- Natural History of Immunologic Deficiency Syndrome
- Status
- Terminated
- Last Updated
- 4 years ago
Overview
Brief 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.
Detailed Description
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Natural History of Immunologic Deficiency Syndrome
Time Frame: Enrollment with follow-up
The objectives of the study are: (6) To perform whole genome, exome, or chemical analysis of genes in selected patients and family members to discover new primary immunodeficiency related genes. Whole genome, exome, or other gene analysis will be done to determine which particular genetic variations can cause the various primary immunodeficiencies such as JAK3 deficiency or NEMO Syndrome. We also seek to study whether particular variations are associated with more or less severe illness, or with specific types of symptoms, to understand the basic mechanism by which these altered genes cause cells to function differently, and to identify other genes causing SCID or NEMO-like syndrome. In order to do this, we need blood specimens (or cells from inside the cheek) from patients and their families. We will use these samples to identify which, if any, abnormality is present in the patient s genes, and to study the behavior of immune cells in vitro.