This study will examine microbes (e.g., bacteria, fungi, viruses) that live on human skin and
how microbes contribute to health and disease. It will analyze healthy human skin and how the
these microorganisms might change in patients with atopic dermatitis (AD), a skin condition
also known as eczema.
Healthy volunteers, as well as patients with moderate to severe eczema (AD), between 2 and 40
years of age may be eligible for this study.
We also wish to enroll children and adults aged 2-40 who have been diagnosed with inherited
immune disorders known as HIES (hyperimmunoglobulin-E syndrome), WAS (Wiskott-Aldrich
syndrome), or DOCK8 immunodeficiency because they frequently have skin problems similar to
Eligible participants undergo the following tests and procedures:
- Medical family and medication history
- Skin examination
- Blood tests (research blood as well as serum IgE, and complete blood count)
- Skin samples to analyze microbes. Samples are obtained by the following methods:
swabbing the skin with a cotton swab; scraping (scratching) the skin gently with a blade
to remove only the outermost skin layers; and, only in adults, biopsy (surgical removal)
of a small skin sample less than 1/4-inch (5 mm) in diameter.
- Nose swabs to analyze microbes.
- Patients with eczema may have photographs of their skin taken to help monitor the skin
Participants may be contacted periodically for follow-up studies. Patients with atopic
dermatitis may have additional skin samples collected to examine changes in the skin bacteria
over time and during all of the stages of eczema. In addition, patients who have a flare of
their eczema are asked to undergo a skin sample collection as soon as possible.
- Skin microbiota (bacteria, fungi, viruses, phage, archae) play a significant role in
common dermatological conditions, such as atopic dermatitis/AD (eczema).
- Since culture-dependent methods are often biased assessments of microbial diversity,
genomic methods can expand our understanding of the human microbiome and skin diseases.
- Chronic dermatitis is typical among rare primary immunodeficiencies: Wiskott-Aldrich
syndrome; hyper-IgE syndrome; and combined immunodeficiency associated with DOCK8
mutation syndrome. The skin disease in these monogenic disorders resembles AD, is
associated with microbial infections, and may provide additional insight into
microbial-host disease interactions.
- INCLUSION CRITERIA:
Inclusion Criteria for all groups
Must have a primary care professional who will continue standard of care/evaluation in
tandem with the protocol to whom information and recommendations can be communicated.
Inclusion Criteria for Group 1: Healthy Volunteers
Adult males or females aged 18-50 at time of enrollment.
Inclusion Criteria for Group 2: AD patients
A. Confirmed diagnosis of AD (UK Working Party s Diagnostic Criteria)24
B. Moderate to severe AD SCORAD greater than or equal to 25(25)
C. Greater than or equal to 1 affected antecubital (or popliteal) fossae at time of
enrollment to serve as a target site.
Inclusion Criteria for Group 3: Healthy (pediatric) Controls
A. Males or females 2 18 years of age.
Inclusion Criteria for Groups 4, 5, & 6: AD/HIES/WAS/DOCK8 patients
A. Must have mutation-proven diagnosis, with or without eczematous dermatitis.
Exclusion Criteria for all groups:
1. Any subjects with unstable or uncontrolled or chronic medical conditions requiring
treatment or hospitalization. Individual determinations will be made at the discretion
of the medical investigator.
2. Any subjects receiving or planning to receive an IND agent, ultraviolet light therapy,
monoclonal antibodies, or systemic immunosuppressants < 7 days or 5 half-lives
(whichever is the longer time period) of initiating this protocol.
3. Any subjects who have cancer, and are currently or have previously received treatment
with chemotherapy or radiation for treatment of malignancies within the previous 6
4. Any subject with a history of bone marrow transplant or gene therapy.
5. Any female with symptoms and/or serum hormone levels consistent with perimenopause.
Exclusion Criteria specific for Group 2: AD patients
A. Unable to remain off systemic (oral) antibiotics or systemic (oral) steroids for at
least 7 days prior to body site sampling. Unable to temporarily discontinue use of topical
steroids or calcineurin inhibitors for 7 days to small areas of skin intended for sampling.
(Topical therapies/emollients for AD may be continued to non-adjacent, nontarget sites.)
B. Underlying immunodeficiency, either as primary disease or secondary to treatment.
Exclusion Criteria specific for Groups 4, 5, & 6: HIES/WAS/DOCK8 patients:
A. Unable to remain off topical steroids and emollients for preferably 7 days but at least
24 hours prior to body site sampling.
Exclusion Criteria specific for Groups 1 & 3: Healthy Volunteers and Healthy (pediatric)
A. Underlying immunodeficiency, either as primary disease or secondary to treatment.
B. Other documented chronic dermatologic disease, such as AD or psoriasis that may
interfere with evaluation of the cutaneous microbiome. Common transient conditions, such as
acne, are permissible.
C. Subjects who provide direct healthcare or reside in healthcare facilities or in
non-hospital settings such as assisted living facilities, homeless shelters, jails and
prisons as well as subjects with frequent exposure to laboratory animals.
D. Subjects with asthma.