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ID

46159

Descrição

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

Palavras-chave

  1. 10/09/2022 10/09/2022 - Simon Heim
  2. 12/10/2022 12/10/2022 - Adrian Schulz
  3. 29/01/2025 29/01/2025 - Akane Nishihara
Titular dos direitos

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

Transferido a

29 de janeiro de 2025

DOI

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Licença

Creative Commons BY 4.0

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

    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.

    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.
    pht002360
    Descrição

    pht002360

    De-identified sample ID
    Descrição

    SAMPID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    UMLS CUI [1,2]
    C2346787
    Body site where sample was collected
    Descrição

    BODY_SITE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C1545955
    UMLS CUI [1,2]
    C0200345
    Analyte type
    Descrição

    ANALYTE_TYPE

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C4744818
    Tumor status of sample [N]
    Descrição

    IS_TUMOR

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0475752
    UMLS CUI [1,2]
    C0370003
    Side of the body where sample came from, nd indicates no data
    Descrição

    SYMMETRY

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0200345
    UMLS CUI [1,2]
    C0441987
    UMLS CUI [1,3]
    C0205091
    UMLS CUI [1,4]
    C0205090
    Sample collection method
    Descrição

    SAMPLEMETHOD

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0200345
    UMLS CUI [1,2]
    C0332307
    Sampling site classification with respect to disease state
    Descrição

    DISEASESTATE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2825164
    UMLS CUI [1,2]
    C1442792
    UMLS CUI [1,3]
    C0012634

    Similar models

    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.

    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
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht002360
    SAMPID
    Item
    De-identified sample ID
    string
    C1299222 (UMLS CUI [1,1])
    C2346787 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C1545955 (UMLS CUI [1,1])
    C0200345 (UMLS CUI [1,2])
    ANALYTE_TYPE
    Item
    Analyte type
    text
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status of sample [N]
    text
    C0475752 (UMLS CUI [1,1])
    C0370003 (UMLS CUI [1,2])
    Code List
    Tumor status of sample [N]
    CL Item
    Not tumor (N)
    SYMMETRY
    Item
    Side of the body where sample came from, nd indicates no data
    string
    C0200345 (UMLS CUI [1,1])
    C0441987 (UMLS CUI [1,2])
    C0205091 (UMLS CUI [1,3])
    C0205090 (UMLS CUI [1,4])
    SAMPLEMETHOD
    Item
    Sample collection method
    string
    C0200345 (UMLS CUI [1,1])
    C0332307 (UMLS CUI [1,2])
    DISEASESTATE
    Item
    Sampling site classification with respect to disease state
    string
    C2825164 (UMLS CUI [1,1])
    C1442792 (UMLS CUI [1,2])
    C0012634 (UMLS CUI [1,3])

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