Study Description:
In this study, we will characterize clinical neurologic presentations of patients with known or unevaluated primary and acquired errors of immunity. Investigating the underlying mechanisms of neurologic diseases and their genetic and immunologic bases requires periodic clinical evaluation of these patients and research analyses of their biospecimens. These biospecimens include blood, cerebrospinal fluid (CSF), urine, saliva, skin, breast milk, stool, vaginal specimens, and wound drainage. Magnetic resonance imaging (MRI) of the neural axis may also be done. Data and excess biospecimens from routine clinical care may also be collected and used for research. We propose to evaluate patients who either have or are suspected of having immune defects or other types of host defense defects with neurologic presentations. Unaffected biological relatives and healthy volunteers will also be enrolled as controls for research analyses.
Primary Objectives:
1. Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
2. Determine genetic defects in participants.
Secondary Objective:
Characterize immune cells in CSF and blood.
Primary Endpoints:
1. Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
2. Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Secondary Endpoint:
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques, including but not limited to immune cell phenotype, transcriptomics, metagenomics, and immune biomarkers.
In this study, we will characterize clinical neurologic presentations of patients with known or unevaluated primary and acquired errors of immunity. Investigating the underlying mechanisms of neurologic diseases and their genetic and immunologic bases requires periodic clinical evaluation of these patients and research analyses of their biospecimens. These biospecimens include blood, cerebrospinal fluid (CSF), urine, saliva, skin, breast milk, stool, vaginal specimens, and wound drainage. Magnetic resonance imaging (MRI) of the neural axis may also be done. Data and excess biospecimens from routine clinical care may also be collected and used for research. We propose to evaluate patients who either have or are suspected of having immune defects or other types of host defense defects with neurologic presentations. Unaffected biological relatives and healthy volunteers will also be enrolled as controls for research analyses.
Primary Objectives:
1. Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
2. Determine genetic defects in participants.
Secondary Objective:
Characterize immune cells in CSF and blood.
Primary Endpoints:
1. Clinical characterization of neurologic manifestations in participants with recognized and unrecognized errors of immunity based on neurologic examination, neuroimaging, and other necessary neurologic tests depending on clinical presentation.
2. Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Secondary Endpoint:
Characterization and comparison of immunologic phenotypes of both CSF and blood in participants with errors of immunity vs healthy controls, and longitudinally in participants using cellular and molecular immunologic techniques, including but not limited to immune cell phenotype, transcriptomics, metagenomics, and immune biomarkers.
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Contact Information
Office/Contact: Farinaz Safavi, MD
Phone: 240-627-3828
Email: farinaz.safavi@nih.gov