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 |
| Published: |
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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