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(JCA-0708) Genetic Predisposition to Chronic Mucocutaneous Candidiasis

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Genetic Predisposition to Chronic Mucocutaneous Candidiasis

Principal Investigator:
Jean-Laurent Casanova MD, PhD

Bertrand Boisson PhD
Laurent Abel MD, PhD

Contact Information:
Yelena Nemirovskaya
The Rockefeller University
1230 York Ave.
New York, NY 10065
Telephone: 212.327.7332
Enrollment Status:
Open to Enrollment

Brief Summary of Protocol:
Dr. Casanova’s laboratory is studying a rare defect in the ability to fight a serious disease. This is due to infection with severe candida. This disease can affect the skin and nails. It is not known why this occurs, but it is likely that there is a change in a collection of genes that causes an increased risk for this condition. The reason for doing this research is to identify these genes that cause predisposition to develop severe fungal disease. This will be important to help diagnose and treat the disease, and guide genetic counseling of families that may be affected.

Approximately, 100 people will take part in the research study. This study will last approximately 10 years.

Detailed Description of Protocol:
This study involves a donation of blood and possibly a skin biopsy. Additionally, you will be asked to complete an epidemiological questionnaire with the assistance of the Principal Investigator and/or the research team. It may be necessary to obtain additional blood samples later in the study. All blood and skin biopsy samples are coded to protect your confidentiality.

What specifically makes a person eligible for the study?
You may be eligible to enter this study:

- Patient with a chronic mucocutaneous candidiasis without any identified mutation in AIRE gene
- Family member of subjects with a chronic mucocutaneous candidiasis



Children permitted to participate:

Potential Benefits.....
There will be no benefit to you from taking part in this research study. Instead, others may benefit in the future from what we learn from this study.

We will give you $20 for your blood donation and $30 for your skin biopsy. If you are a child you will receive a gift card to Toys “R” Us in the amount of $20 for your blood donation and $30 for your skin biopsy.