Studies of Skin Microbes in Healthy People and in People With Skin Conditions

• 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

Exclusion criteria

for all groups:

• 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.
• 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 months.
• Any subject with a history of bone marrow transplant or gene therapy.

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 greater than or equal to 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) Controls:

A. 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.

B. Underlying immunodeficiency, either as primary disease or secondary to treatment.

C. 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.

D. 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.

E. Subjects with asthma.

• Any female with symptoms and/or serum hormone levels consistent with perimenopause