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

Article metrics

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 7.

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

Download references

Author information

Correspondence to Zohreh Nademi.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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) doi:10.1038/s41409-018-0246-x

Download citation

Further reading