Introduction/Background
Deficiency in cytidine 5-prime triphosphate synthase 1 (CTPS1) causes a combined immunodeficiency affecting both cellular and humoral immunity. CTPS1, one of two mammalian CTP synthases (the other being CTPS2), catalyzes the formation of CTP, an essential nucleotide for DNA and RNA synthesis (Veillette and Davidson 2014). The CTPS1 gene is located on chromosome 1p34.2. CPTS1 is expressed in lymphocytes at very low levels, but marked upregulation in T cells occurs upon activation. Lymphocytes from patients with CTPS1 deficiency have reduced intracellular levels of CTP but not the mRNA transcript product, which suggests a defect in protein stability (Martin et al. 2014). Lymphocytes arrest in G1 phase of cellular replication, severely limiting lymphocyte expansion following activation.
The diagnosis of CTPS1 deficiency is difficult. Patients can have a relatively normal immunologic workup, especially in the absence of chronic EBV infection (Truck et al. 2016)....
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References
Kucuk ZY, Zhang K, Filipovich L, Bleesing JJH. CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection. J Clin Immunol. 2016;36(8):750–3.
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, et al. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature. 2014;510(7504):288–92.
Martin E, et al. First report establishing link between CTPS1 mutation and immune deficiency in eight patients with severe EBV disease. 2016.
Trück J, Kelly DF, Taylor JM, Kienzler AK, Lester T, Seller A, et al. Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings. J Allergy Clin Immunol. 2016;138(6):1722–25.
Veillette ACA, Davidson D. Immunology: When lymphocytes run out of steam. Nature. 2014;510(7504):222–3.
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Fox, T.G. (2018). Cytidine 5-Prime Triphosphate Synthase 1 (CTPS1) Deficiency (OMIM # 615897). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_102-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_102-1
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