Article
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
JCI insight - 12 Mar 2020
Martin Emmanuel, Minet Norbert, Boschat Anne-Claire, Sanquer Sylvia, Sobrino Steicy, Lenoir Christelle, de Villartay Jean Pierre, Leite-de-Moraes Maria, Picard Capucine, Soudais Claire, Bourne Tim, Hambleton Sophie, Hughes Stephen M, Wynn Robert F, Briggs Tracy A, Patel Smita, Lawrence Monica G, Fischer Alain, Arkwright Peter D, Latour Sylvain
Abstract excerpt
Cytidine triphosphate (CTP) synthetase 1 (CTPS1) deficiency is caused by a unique homozygous frameshift splice mutation (c.1692-1G>C, p.T566Dfs26X). CTPS1-deficient patients display severe bacterial and viral infections. CTPS1 is responsible for CTP nucleotide de novo production involved in DNA/RNA synthesis. Herein, we characterized in depth lymphocyte defects associated with CTPS1 deficiency. Immune phenotyping...
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