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ID

46159

Description

Principal Investigator: Julia Segre, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Dermatitis, Atopic,Job's Syndrome,Wiskott-Aldrich Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000266 The NIH Intramural Skin Microbiome Consortium (NISMC) is a collaboration of investigators with primary expertise in genomics, bioinformatics, large-scale DNA sequencing, dermatology, immunology, allergy, infectious disease, and clinical microbiology. Atopic dermatitis (AD, "eczema") is a chronic relapsing skin disorder that affects ~15% of U.S. children and is associated with $1 billion of medical costs annually. AD is characterized by dry, itchy skin, infiltrated with immune cells. Colonization by Staphylococcus aureus (S. aureus) is ten-fold more common in AD patients and is associated with disease flares. We hypothesize that, in addition to S. aureus, AD may also be associated with additional novel microbes and/or selective shifts of commensal microbes that are relevant to disease progression. The NISMC seeks to define the microbiota that resides in and on the skin and nares of three patient groups, all of whom have eczematous lesions and are currently seen at the NIH Clinical Center: (1) AD patients; (2) Wiskott-Aldrich syndrome (WAS) patients; and (3) Hyper IgE syndrome (HIES) syndrome patients. Examination of the microbiome of patients with WAS or HIES syndromes, both rare immunodeficiencies, will advance our understanding of how an individual's immune system shapes their cutaneous microbial community. We are performing a prospective longitudinal study that follows these groups of patient thorough the cycles of eczema flares, ascertaining clinical data and samples at each stage.

Link

dbGaP study=phs000266

Keywords

  1. 9/10/22 9/10/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
  3. 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder

Julia Segre, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Uploaded on

January 29, 2025

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000266 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency

    Subject ID, consent group, clinical status of subject, subject source, and subject source ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.

    1. StudyEvent: dbGaP phs000266 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency
      1. Eligibility Criteria
      2. Subject ID, consent group, clinical status of subject, subject source, and subject source ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      3. Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      4. Subject ID, sex, race, ethnicity, age at initial visit, case or control, minimal and maximal score of atopic dermatitis severity, subject weight, and body site of sample collection of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      5. Sample ID and GeneBank ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      6. Sample ID, body site where sample was collected, side of body where sample came from, sample collection method, sampling site classification with respect to disease state, analyte type, and tumor status of samples obtained from participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
    pht001264
    Description

    pht001264

    Subject ID
    Description

    SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Consent group as determined by DAC
    Description

    CONSENT

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0021430
    Source repository where subjects originate [NIH Clinical Center]
    Description

    SUBJ_SOURCE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449416
    UMLS CUI [1,2]
    C3847505
    Subject ID used in the Source Repository
    Description

    SOURCE_SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    UMLS CUI [1,2]
    C0449416
    UMLS CUI [1,3]
    C3847505
    Case control status of the subject
    Description

    CLINICAL_STATUS

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3274646

    Similar models

    Subject ID, consent group, clinical status of subject, subject source, and subject source ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.

    1. StudyEvent: dbGaP phs000266 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency
      1. Eligibility Criteria
      2. Subject ID, consent group, clinical status of subject, subject source, and subject source ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      3. Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      4. Subject ID, sex, race, ethnicity, age at initial visit, case or control, minimal and maximal score of atopic dermatitis severity, subject weight, and body site of sample collection of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      5. Sample ID and GeneBank ID of participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
      6. Sample ID, body site where sample was collected, side of body where sample came from, sample collection method, sampling site classification with respect to disease state, analyte type, and tumor status of samples obtained from participants with or without atopic dermatitis and involved in the "Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency" project.
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht001264
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    Item
    Consent group as determined by DAC
    text
    C0021430 (UMLS CUI [1,1])
    Code List
    Consent group as determined by DAC
    CL Item
    Human Microbiome Research (HMP) (1)
    SUBJ_SOURCE
    Item
    Source repository where subjects originate [NIH Clinical Center]
    string
    C0449416 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    SOURCE_SUBJID
    Item
    Subject ID used in the Source Repository
    string
    C2348585 (UMLS CUI [1,1])
    C0449416 (UMLS CUI [1,2])
    C3847505 (UMLS CUI [1,3])
    Item
    Case control status of the subject
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case control status of the subject
    CL Item
    Control (1)
    CL Item
    Atopic dermatitis (2)
    CL Item
    HyperIgE Syndrome (3)
    CL Item
    Wiskott Aldrich Syndrome (4)
    CL Item
    Hyper IgE syndrome, DOCK8 (5)

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