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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, 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.

    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.
    pht001265
    Description

    pht001265

    Subject ID
    Description

    SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Sample ID
    Description

    SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Source repository where samples originate
    Description

    SAMP_SOURCE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449416
    UMLS CUI [1,2]
    C3847505
    UMLS CUI [1,3]
    C0370003
    Sample ID used in the Source Repository
    Description

    SOURCE_SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449416
    UMLS CUI [1,2]
    C3847505
    UMLS CUI [1,3]
    C1299222
    Sample Use
    Description

    SAMPLE_USE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0370003
    UMLS CUI [1,2]
    C0457083

    Similar models

    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.

    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
    pht001265
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    SAMP_SOURCE
    Item
    Source repository where samples originate
    string
    C0449416 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C0370003 (UMLS CUI [1,3])
    SOURCE_SAMPID
    Item
    Sample ID used in the Source Repository
    string
    C0449416 (UMLS CUI [1,1])
    C3847505 (UMLS CUI [1,2])
    C1299222 (UMLS CUI [1,3])
    Item
    Sample Use
    text
    C0370003 (UMLS CUI [1,1])
    C0457083 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    Sequences of bacterial 16S rRNA (Bacterial_16S_rRNA)
    CL Item
    Sequences of fungal 18S rRNA (Fungal_18S_rRNA)
    CL Item
    Sequences of fungal RNA region from internal transcribed spacer (ITS) (Fungal_ITS1_RNA)

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