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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