Metabolic Profiling of Immune Responses in Immune-mediated Diseases

Description

Background: The immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal. Researchers want to learn more to better treat conditions that affect immune response. Objective: To learn about how the immune system and skin healing are related to each other. Eligibility: People ages 18-75 with primary immune deficiency, eczema, or psoriasis. Healthy volunteers are also needed. Design: Participants will be screened with a medical and medicine history and a physical exam. They may take a pregnancy test. Participants will discuss the medicines or supplements they take as well as skin products they use, such as soaps and lotions. Participants will have up to 4 skin biopsies taken from the forearm. A needle will inject an anesthetic into the skin where the biopsy will be done. A sharp tool that looks like a tiny cookie cutter will be used to remove a round plug of skin a bit smaller than the tip of a pencil. Participants will give at least 1 blood sample. Participants may have optional skin swab collection. A cotton swab will be used to swab the skin on the arm. Participants may have optional skin tape collection. A sticky strip of tape will be placed on the arm and then removed. Participants may give leftover samples taken as part of their regular medical care. Participation will last for about 4 days. Participants will have 2 visits that each last about 1 hour. They may be asked to repeat the study in the future.

Conditions

Primary Immunodeficiency, Psoriasis, Atopic Dermatitis, Immune-mediated Diseases

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Study Overview

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Study Details

Study overview

Background: The immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal. Researchers want to learn more to better treat conditions that affect immune response. Objective: To learn about how the immune system and skin healing are related to each other. Eligibility: People ages 18-75 with primary immune deficiency, eczema, or psoriasis. Healthy volunteers are also needed. Design: Participants will be screened with a medical and medicine history and a physical exam. They may take a pregnancy test. Participants will discuss the medicines or supplements they take as well as skin products they use, such as soaps and lotions. Participants will have up to 4 skin biopsies taken from the forearm. A needle will inject an anesthetic into the skin where the biopsy will be done. A sharp tool that looks like a tiny cookie cutter will be used to remove a round plug of skin a bit smaller than the tip of a pencil. Participants will give at least 1 blood sample. Participants may have optional skin swab collection. A cotton swab will be used to swab the skin on the arm. Participants may have optional skin tape collection. A sticky strip of tape will be placed on the arm and then removed. Participants may give leftover samples taken as part of their regular medical care. Participation will last for about 4 days. Participants will have 2 visits that each last about 1 hour. They may be asked to repeat the study in the future.

Metabolic Profiling of Immune Responses in Immune-Mediated Diseases

Metabolic Profiling of Immune Responses in Immune-mediated Diseases

Condition
Primary Immunodeficiency
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. Meets one of the following:
  • 1. Has documentation of PID confirmed by genetic evaluation demonstrating a deleterious variant in the gene (or genes) known to be associated with immune deficiency (confirmed PID); or
  • 2. Has documented variant of undetermined significance in a gene (or genes) that is predicted to be deleterious in immune function by the investigators AND a clinical history of infections which are more frequent, more chronic, or more severe than normal (suspected PID); or
  • 3. Has physician-diagnosed psoriasis; or
  • 4. Has physician-diagnosed AD; or
  • 5. Does not have clinically apparent evidence of any monogenic or digenic immune defect, AD, or psoriasis (healthy volunteers).
  • 2. Aged 18 to 75 years.
  • 3. Willing to allow storage of blood, biopsy tissue, bacterial and fungal cultures, and any other samples collected for future research.
  • 4. Able to provide informed consent.
  • 1. Current or prior (within 3 months) anticoagulant or anti-platelet therapy (other than aspirin or non-steroidal anti-inflammatory drugs).
  • 2. Current or prior (within 3 months) use of immunomodulatory drugs (eg, chemotherapy, steroids), except if approved by the principal investigator.
  • 3. History of keloid formation.
  • 4. Pregnancy, lactating, or breastfeeding.
  • 5. Any condition that, in the opinion of the investigator, contraindicates participation in the study.

Ages Eligible for Study

18 Years to 75 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Allergy and Infectious Diseases (NIAID),

Ian A Myles, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

2027-06-30