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Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency

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  1. 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;510:288–92.

    CAS  Article  Google Scholar 

  2. Wynn RF, Arkwright PD, Haque T, Gharib M, Wilkie G, Morton-Jones M, et al. Treatment of Epstein-Barr-virus-associated primary CNS B-cell lymphoma with allogeneic T-cell immunotherapy and stem-cell transplantation. Lancet Oncol. 2005;6:344–46.

    Article  Google Scholar 

  3. Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383:436–48.

    Article  Google Scholar 

  4. Naik S, Nicholas S, Martinez C, Leen A, Hanley P, Gottschalk S, et al. Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific cytotoxic T-lymphocytes. J Allergy Clin Immunol. 2016;137:1498–505.

    CAS  Article  Google Scholar 

  5. Trück J, Kelly DF, Taylor JM, Kienzler A, 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;ume 138:1722–5.

    Article  Google Scholar 

  6. Kucuk ZY, Zhang K, Filipovich L, Blessing J. CTP synthase 1 deficiency in successfully transplanted siblings with combined immune deficiency and chronic active EBV infection. J Clin Immunol. 2016;36:750–3.

    Article  Google Scholar 

  7. Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for primary immunodeficiency disease. Bone Marrow Transplant. 2008;41:119–26.

    CAS  Article  Google Scholar 

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Correspondence to Zohreh Nademi.

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Nademi, Z., Wynn, R.F., Slatter, M. et al. Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency. Bone Marrow Transplant 54, 130–133 (2019).

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