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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