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.

Lien

dbGaP study=phs000266

Mots-clés

  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
Détendeur de droits

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

Téléchargé le

29 janvier 2025

DOI

Pour une demande vous connecter.

Licence

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

Type de données

string

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

SAMPID

Type de données

string

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

SAMP_SOURCE

Type de données

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

Type de données

string

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

SAMPLE_USE

Type de données

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)
Type de données
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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