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Abstract #2095

Mouse model of ADA deficiency shows similar brain abnormalities as human patients.

Yichao Yu 1 , Gavin Kenny 1 , Lin Zhang 2 , N. M. Powell 1,3 , H. Bobby Gaspar 4 , and Mark F. Lythgoe 1

1 Centre for Advanced Biomedical Imaging, Division of Medicine, University College London, London, United Kingdom, 2 Shanghai Institute of Hematology, Rui Jin Hospital affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China, 3 Centre for Medical Image Computing, Department of Medical Physics and Bioengineering, University College London, London, United Kingdom, 4 Centre of Immunodeficiency, Molecular Immunology Unit, Institute of Child Health, London, United Kingdom

Adenosine deaminase (ADA) deficiency is a major cause of severe combined immunodeficiency. Patients suffer from a loss of immune protection and a consequent susceptibility to infections, but also exhibit behavioural impairments and volume loss in certain brain structures. We have a mouse model of ADA deficiency, and using high resolution ex vivo MRI and tensor-based morphometry, we for the first time identified in the ADA deficient mice volumetric changes of brain structures that emerged later during development, mirrored human findings, but were much more extensive. This provides further evidence of brain abnormalities in this disorder and opens up new questions.

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