Primary immunodeficiency disorders articles within Nature

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• Article | 20 March 2024

  Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency

  IL-27RA–IL-27 has a critical role in the immunity to EBV, and this defence is hijacked by Epstein–Barr virus to promote the expansion of infected transformed B cells

  • Emmanuel Martin
  • , Sarah Winter
  •  & Sylvain Latour

• Letter | 11 July 2018

  Reprogramming human T cell function and specificity with non-viral genome targeting

  A non-viral strategy to introduce large DNA sequences into T cells enables the correction of a pathogenic mutation that causes autoimmunity, and the replacement of an endogenous T-cell receptor with an engineered receptor that can recognize cancer antigens.

  • Theodore L. Roth
  • , Cristina Puig-Saus
  •  & Alexander Marson

• Letter | 12 October 2014

  Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

  ISG15 deficiency in humans leads to a failure to maintain adequate levels of USP18, triggering an increase in type I interferon production and signalling, and promoting auto-inflammatory disease.

  • Xianqin Zhang
  • , Dusan Bogunovic
  •  & Sandra Pellegrini

• Letter | 28 May 2014

  CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

  Loss-of-function mutations in the human CTP synthase 1 gene cause an immunodeficiency disease with impaired T cell proliferation after antigen stimulation, revealing a potential new target for immunosuppressive drugs.

  • Emmanuel Martin
  • , Noé Palmic
  •  & Sylvain Latour

• Article | 27 July 2011

  Second messenger role for Mg²⁺ revealed by human T-cell immunodeficiency

  • Feng-Yen Li
  • , Benjamin Chaigne-Delalande
  •  & Michael J. Lenardo