0 Ratings
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

Versions (3)
  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

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January 29, 2025

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Creative Commons BY 4.0
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    dbGaP phs000266 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency

    English

    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.

    6 forms  
    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.
    pht001266
    Description

    pht001266

    De-identified subject's ID
    Description

    SUBJID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2348585
    UMLS CUI [1,2]
    C2346787
    Gender of participant [Male; Female]
    Description

    sex

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Race of participant [Hispanic or Latino; Not Hispanic or Latino]
    Description

    race

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0086409
    UMLS CUI [1,2]
    C0086528
    UMLS CUI [2,1]
    C1518424
    Ethnicity of participant [American Indian/ Alaska Native; Asian; Native Hawaiian or Other Pacific Islander; Black or African American; White]
    Description

    ethnicity

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0015031
    Age at initial visit
    Description

    AGE_STATUS

    Data type

    text

    Measurement units
    • Years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0205435
    UMLS CUI [1,3]
    C0545082
    Years
    Case or control?
    Description

    case_control

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C1706256
    UMLS CUI [2,1]
    C0009932
    Minimum Score of atopic dermatitis severity
    Description

    Min_SCORAD_Obj

    Data type

    float

    Measurement units
    • severity
    Alias
    UMLS CUI [1,1]
    C1524031
    UMLS CUI [1,2]
    C0449820
    UMLS CUI [1,3]
    C0011615
    UMLS CUI [1,4]
    C1319166
    severity
    Maximum score of atopic dermatitis severity
    Description

    Max_SCORAD_Obj

    Data type

    float

    Measurement units
    • severity
    Alias
    UMLS CUI [1,1]
    C0806909
    UMLS CUI [1,2]
    C0449820
    UMLS CUI [1,3]
    C1319166
    UMLS CUI [1,4]
    C0011615
    severity
    Subject's weight
    Description

    weight_kg

    Data type

    float

    Measurement units
    • kg
    Alias
    UMLS CUI [1,1]
    C0005910
    kg
    Site of sample collection [skin; nose; stool; oral]
    Description

    body_site

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2825164
    UMLS CUI [1,2]
    C0200345
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    Similar models

    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.

    6 forms
    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
    pht001266
    SUBJID
    Item
    De-identified subject's ID
    text
    C2348585 (UMLS CUI [1,1])
    C2346787 (UMLS CUI [1,2])
    Item
    Gender of participant [Male; Female]
    text
    C0079399 (UMLS CUI [1,1])
    CL.5
    Code List
    Gender of participant [Male; Female]
    CL Item
    Female (1)
    C0086287 (UMLS CUI [1,1])
    CL Item
    Male (2)
    C0086582 (UMLS CUI [1,1])
    Item
    Race of participant [Hispanic or Latino; Not Hispanic or Latino]
    text
    C0086409 (UMLS CUI [1,1])
    C0086528 (UMLS CUI [1,2])
    C1518424 (UMLS CUI [2,1])
    race
    Code List
    Race of participant [Hispanic or Latino; Not Hispanic or Latino]
    CL Item
    Hispanic or Latino (6666)
    C0086409 (UMLS CUI [1,1])
    CL Item
    Not Hispanic or Latino (9999)
    C1518424 (UMLS CUI [1,1])
    ethnicity
    Item
    Ethnicity of participant [American Indian/ Alaska Native; Asian; Native Hawaiian or Other Pacific Islander; Black or African American; White]
    text
    C0015031 (UMLS CUI [1,1])
    AGE_STATUS
    Item
    Age at initial visit
    text
    C0001779 (UMLS CUI [1,1])
    C0205435 (UMLS CUI [1,2])
    C0545082 (UMLS CUI [1,3])
    Item
    Case or control?
    text
    C1706256 (UMLS CUI [1,1])
    C0009932 (UMLS CUI [2,1])
    case_control
    Code List
    Case or control?
    CL Item
    Control (1)
    C0009932 (UMLS CUI [1,1])
    CL Item
    Atopic dermatitis (2)
    C0011615 (UMLS CUI [1,1])
    CL Item
    HyperIgE Syndrome (3)
    C3887645 (UMLS CUI [1,1])
    CL Item
    Wiskott Aldrich Syndrome (4)
    C0043194 (UMLS CUI [1,1])
    CL Item
    Hyper IgE syndrome, DOCK8 (5)
    C3887645 (UMLS CUI [1,1])
    C0021051 (UMLS CUI [1,2])
    Min_SCORAD_Obj
    Item
    Minimum Score of atopic dermatitis severity
    float
    C1524031 (UMLS CUI [1,1])
    C0449820 (UMLS CUI [1,2])
    C0011615 (UMLS CUI [1,3])
    C1319166 (UMLS CUI [1,4])
    Max_SCORAD_Obj
    Item
    Maximum score of atopic dermatitis severity
    float
    C0806909 (UMLS CUI [1,1])
    C0449820 (UMLS CUI [1,2])
    C1319166 (UMLS CUI [1,3])
    C0011615 (UMLS CUI [1,4])
    weight_kg
    Item
    Subject's weight
    float
    C0005910 (UMLS CUI [1,1])
    body_site
    Item
    Site of sample collection [skin; nose; stool; oral]
    string
    C2825164 (UMLS CUI [1,1])
    C0200345 (UMLS CUI [1,2])
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