Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity

Description

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....

Conditions

Nervous System Disease, Immune System Disease

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Study Overview

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Study Details

Study overview

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....

Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity

Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity

Condition
Nervous System Disease
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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 authorized representative (LAR) to provide informed consent on their behalf.
  • 1. Any neurologic symptoms accompanied by CSF with evidence of inflammation (which may include pleocytosis, hypoglycorrachia, elevated protein, or other evidence of intrathecal immune activation, including immunoglobulin \[Ig\] G index or presence of oligoclonal bands).
  • 2. Systemic infection or inflammatory disease with neurologic involvement.
  • 3. Neuroimaging suggestive of infection or inflammation (for example, presence of contrast-enhancing lesions on CT or MRI).
  • 4. Clinical presentation suggestive of infection or inflammatory process of the nervous system without better explanation.
  • 5. History of infection or inflammatory process of the nervous system.
  • 1. Is either a biological relative of an affected participant or is unrelated.
  • 2. Does not have a known diagnosis of neuroinfectious disease or neuroinflammation.
  • 1. Pregnant (for biological relatives and healthy volunteers).
  • 2. 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.

Ages Eligible for Study

2 Years to 120 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Allergy and Infectious Diseases (NIAID),

Farinaz Safavi, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

2043-10-01