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(XFK-0815) Down Syndrome

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Genetic and Immunological Dissection of the Pathogenesis of Chronic Mucocutaneous Disease in Subjects with Down Syndrome

Principal Investigator:
Xiao-Fei Kong


Contact Information:
Clinical Research Support Office The Rockefeller University
1230 York Ave
New York, NY 10065
Telephone: 18007822737
Alt. Telephone: 18007822737
Enrollment Status:
Closed to Enrollment

Brief Summary of Protocol:
Genetically inherited errors of immunity can lead to infectious diseases in children. Children with a reduced response to interferons (IFNs) are susceptible to mycobacterial infection. Individuals with an increased response to IFNs are susceptible to skin fungal infection and autoimmune disorders. A typical child should have two sets of chromosomes, one paternal and one maternal, and therefore an IFN receptor gene from each parent. In health, both copies of the IFN receptor gene are required to mediate an efficient response to IFNs and ensure host protection. The absence of one of the functional receptor genes leads to susceptibility to mycobacterial infection. The impact of extra copies of IFN genes has not been well studied, and we hypoethsize that the extra gene copies contribute to an enhanced response to IFNs. We are now interested in studying the health and immune responses of people with three copies of IFNs receptors genes located on chromosome 21. Trisomy (three copies rather than the usual 2) for chromosome 21 causes Down syndrome (DS), which is a common pediatric diagnosis that presents with varying degrees of cognitive delay, autoimmune disorder and vulnerability to infections, especially mucocutaneous fungal infection. We hypothesize that people with DS might have enhanced responses to IFNs due to an extra chromosome 21. Another hypothesis is that people with DS might also suffer from an impaired immunity, which could explain the occurrence of frequent fungal infections. We will collect blood samples from people with DS between the ages of 3 – 80 years of age, who have agreed to enroll in the study to investigate their IFN responses and IL-17 immunity. We would also like to collect blood samples from their immediate biological family members to compare the immunologic response.

Detailed Description of Protocol:
We will ask about your medical history, conduct a physical examination, and do a blood draw.

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

Clinical diagnosis of Down Syndrome OR An immediate biologic family member of a person with Down Syndrome



Children permitted to participate:

Potential Benefits.....
There will be no benefit to you other than receiving physical exams and getting information about your general health. Instead, others may benefit in the future from what we learn from this study.

Compensation is provided