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Immune function in ATP6V0A2-related cutis laxa

Morrow, Michelle (2017) Immune function in ATP6V0A2-related cutis laxa. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Cutis laxa (CL) is a genetic disorder of connective tissue. CL has known effects on multiple body systems, but its relationship to immune function has not been characterized. Recently, the laboratory of Jordan Orange, MD, PhD identified a patient with immune deficiency disease who also had a mutation in a known CL-causing gene, ATP6V0A2. This observation prompted us to look for evidence of immune dysfunction among individuals with ATP6V0A2- related CL. We administered an infection history survey to study participants with ATP6V0A2- related CL, their unaffected relatives, and individuals with ELN-related CL. We calculated a novel age weighted infection score for each participant and compared the three groups. We found that individuals with ATP6V0A2-related CL had significantly higher infection scores than unaffected family members (p=0.0004) or individuals with ELN-related cutis laxa (p=0.0016). These data suggest that ATP6V0A2 mutations have a deleterious effect on immune function. Our findings have public health significance because they further characterize the natural history of ATP6V0A2-related CL and thus enhance our ability to assess this condition in the population. The infection history questionnaire has the potential to be used in guiding genetic testing and in guiding medical management, support the public health function of policy development. In addition, research in CL is relevant to aging and to conditions that affect larger populations, such as asthma, chronic obstructive pulmonary disease, and heart disease.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Morrow, Michellemim37@pitt.edumim370000-0001-9475-0934
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairUrban, Zsolturbanz@pitt.eduurbanz
Committee MemberD'Cruz, Louiseldcruz@pitt.eduldcruz
Committee MemberDurst, Andreaadurst@pitt.eduadurst
Date: 29 June 2017
Date Type: Publication
Defense Date: 19 April 2017
Approval Date: 29 June 2017
Submission Date: 26 May 2017
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 93
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: cutis laxa, ATP6V0A2, immune function
Date Deposited: 29 Jun 2017 23:24
Last Modified: 01 May 2018 05:15
URI: http://d-scholarship.pitt.edu/id/eprint/32175

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