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Journal article

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings

Abstract:
We describe the phenotype of 2 siblings with combined immunodeficiency due to CTPS1 deficiency and demonstrate the value of WES for rapid diagnosis of primary immunodeficiency even for conditions whose phenotype is not well recognized.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.jaci.2016.04.059

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Paediatrics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Paediatrics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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National Institute for Health Research More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Journal of Allergy and Clinical Immunology Journal website
Volume:
138
Issue:
6
Pages:
1722–1725.e6
Publication date:
2016-07-01
Acceptance date:
2016-04-13
DOI:
EISSN:
1097-6825
ISSN:
0091-6749 and 1097-6825
Source identifiers:
631015
Keywords:
Pubs id:
pubs:631015
UUID:
uuid:ace8197c-4301-4517-bdd3-6f2b8082a34d
Local pid:
pubs:631015
Deposit date:
2016-06-30

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