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

Uploaded on

January 29, 2025

DOI

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License

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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