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....
Aged >=2 years. To be seen at the NIH CC, participants must be >=3 years of age.
Willing to allow specimens and data to be stored for future research.
Willing to allow genetic testing on their biospecimens.
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).
Pregnant (for biological relatives and healthy volunteers).
Any condition that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study.
Participants will be recruited from NIH protocols 15-N-0125 (Natural History Study of Inflammatory and Infectious Diseases of the Nervous System) and 93-I-0119 (Detection and Characterization of Host Defense Defects), or from referrals. Biological relatives of affected participants may be enrolled on this study as controls.
Cohort
Prospective
Not listed
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.
Clinically characterize neurologic manifestations of errors of immunity via neurologic exam and neuroimaging.
Characterization of inherited or acquired errors of immunity in participants with rare neurologic diseases.
Determine genetic defects in participants.
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.
Characterize immune cells in CSF and blood.
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