Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity
National Institute of Allergy and Infectious Diseases (NIAID)
Summary
Background: Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in their immune system.These complications can affect many body functions, including how they move, walk, think, and feel. Researchers do not fully understand how immune diseases affect the nervous system. By learning more, they hope to create more effective treatments. Objective: To learn more about the interaction between immune and nervous system and how immunity disease affect the nervous system. Eligibility: People aged 2 years and older with an immunity disease. Their healthy biological relatives and other healthy volunteers are also needed. Design: Participants will be screened. Blood will be drawn for research. They may have imaging scans. Adults may undergo lumbar puncture: A needle will be inserted into their back to collect fluid from the space around the spinal cord. The imaging scans and lumbar puncture will be optional for healthy relatives and volunteers. All participants will have 1 study visit per year for 5 years. They will be asked to donate samples of body fluids at each visit. Blood samples are required for the study. All other donations are optional. These may include saliva, urine, breast milk, stool, vaginal secretions, and wound drainage. Affected participants may be asked for a skin biopsy: A small sample of skin will be removed. They may also be photographed or videotaped to record the symptoms of their disease. Tests for each study visit may be spread over several days, if needed. Visits may be at the clinic. Participants may also collect their own samples at home and send them to the researchers....
Description
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…
Eligibility
- Age range
- 2–120 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Aged \>=2 years. To be seen at the NIH CC, participants must be \>=3 years of age. 2. Willing to allow specimens and data to be stored for future research. 3. Willing to allow genetic testing on their biospecimens. 4. Able to provide informed consent (for ages \>=18 years) or has parent(s) or guardian(s) who can provide permission to participate on their behalf (for ages \<18 years). * Decisionally impaired affected adult participants may have a legally au…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland