Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings
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.
Main Authors: | , , , , , , , |
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Format: | Journal article |
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Elsevier
2016
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_version_ | 1797088341642969088 |
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author | Truck, J Kelly, D Taylor, J Kienzler, A Lester, T Seller, A Pollard, A Patel, S |
author_facet | Truck, J Kelly, D Taylor, J Kienzler, A Lester, T Seller, A Pollard, A Patel, S |
author_sort | Truck, J |
collection | OXFORD |
description | 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. |
first_indexed | 2024-03-07T02:48:39Z |
format | Journal article |
id | oxford-uuid:ace8197c-4301-4517-bdd3-6f2b8082a34d |
institution | University of Oxford |
last_indexed | 2024-03-07T02:48:39Z |
publishDate | 2016 |
publisher | Elsevier |
record_format | dspace |
spelling | oxford-uuid:ace8197c-4301-4517-bdd3-6f2b8082a34d2022-03-27T03:32:01ZVariable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblingsJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:ace8197c-4301-4517-bdd3-6f2b8082a34dSymplectic Elements at OxfordElsevier2016Truck, JKelly, DTaylor, JKienzler, ALester, TSeller, APollard, APatel, SWe 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. |
spellingShingle | Truck, J Kelly, D Taylor, J Kienzler, A Lester, T Seller, A Pollard, A Patel, S Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title | Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title_full | Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title_fullStr | Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title_full_unstemmed | Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title_short | Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings |
title_sort | variable phenotype and discrete alterations of immune phenotypes in ctp synthase 1 deficiency report of two siblings |
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