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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