ID

46159

Beskrivning

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.

Länk

dbGaP study=phs000266

Nyckelord

  1. 2022-09-10 2022-09-10 - Simon Heim
  2. 2022-10-12 2022-10-12 - Adrian Schulz
  3. 2025-01-29 2025-01-29 - Akane Nishihara
Rättsinnehavare

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

Uppladdad den

29 januari 2025

DOI

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Licens

Creative Commons BY 4.0

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

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.

  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.
pht001264
Beskrivning

pht001264

Subject ID
Beskrivning

SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beskrivning

CONSENT

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
Source repository where subjects originate [NIH Clinical Center]
Beskrivning

SUBJ_SOURCE

Datatyp

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used in the Source Repository
Beskrivning

SOURCE_SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Case control status of the subject
Beskrivning

CLINICAL_STATUS

Datatyp

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

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.

  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
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht001264
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
Human Microbiome Research (HMP) (1)
SUBJ_SOURCE
Item
Source repository where subjects originate [NIH Clinical Center]
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
CL Item
Atopic dermatitis (2)
CL Item
HyperIgE Syndrome (3)
CL Item
Wiskott Aldrich Syndrome (4)
CL Item
Hyper IgE syndrome, DOCK8 (5)

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