Display options
Cite
Howson LJ, Awad W, von Borstel A, et al. Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in . Sci Immunol. 2020;5(49)doi: 10.1126/sciimmunol.abc9492.
Howson, L. J., Awad, W., von Borstel, A., Lim, H. J., McWilliam, H. E. G., Sandoval-Romero, M. L., Majumdar, S., Hamzeh, A. R., Andrews, T. D., McDermott, D. H., Murphy, P. M., Le Nours, J., Mak, J. Y. W., Liu, L., Fairlie, D. P., McCluskey, J., Villadangos, J. A., Cook, M. C., Turner, S. J., Davey, M. S., Ojaimi, S., & Rossjohn, J. (2020). Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in . Science immunology, 5(49), . https://doi.org/10.1126/sciimmunol.abc9492
Howson, Lauren J, et al. "Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in ." Science immunology vol. 5,49 (2020). doi: https://doi.org/10.1126/sciimmunol.abc9492
Howson LJ, Awad W, von Borstel A, Lim HJ, McWilliam HEG, Sandoval-Romero ML, Majumdar S, Hamzeh AR, Andrews TD, McDermott DH, Murphy PM, Le Nours J, Mak JYW, Liu L, Fairlie DP, McCluskey J, Villadangos JA, Cook MC, Turner SJ, Davey MS, Ojaimi S, Rossjohn J. Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in . Sci Immunol. 2020 Jul 24;5(49). doi: 10.1126/sciimmunol.abc9492. PMID: 32709702; PMCID: PMC8581949.
Copy Download .nbib Format: NLM
Share it on

Sci Immunol. 2020 Jul 24;5(49). doi: 10.1126/sciimmunol.abc9492.

Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in .

Science immunology

Lauren J Howson, Wael Awad, Anouk von Borstel, Hui Jing Lim, Hamish E G McWilliam, Maria L Sandoval-Romero, Shamik Majumdar, Abdul Rezzak Hamzeh, Thomas D Andrews, David H McDermott, Philip M Murphy, Jérôme Le Nours, Jeffrey Y W Mak, Ligong Liu, David P Fairlie, James McCluskey, Jose A Villadangos, Matthew C Cook, Stephen J Turner, Martin S Davey, Samar Ojaimi, Jamie Rossjohn

Affiliations

  1. Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia. [email protected] [email protected].
  2. Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
  3. Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
  4. Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
  5. Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
  6. Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
  7. Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.
  8. Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
  9. Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
  10. ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
  11. Department of Microbiology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
  12. Department of Infectious Diseases, Monash Health, Clayton, Victoria, Australia.
  13. Centre for Inflammatory Diseases, Monash University, Clayton, Victoria, Australia.
  14. Department of Allergy and Immunology, Monash Health, Clayton, Victoria, Australia.
  15. Institute of Infection and Immunity, Cardiff University School of Medicine, Heath Park, Cardiff, UK.

PMID: 32709702 PMCID: PMC8581949 DOI: 10.1126/sciimmunol.abc9492

Abstract

The role unconventional T cells play in protective immunity in humans is unclear. Mucosal-associated invariant T (MAIT) cells are an unconventional T cell subset restricted to the antigen-presenting molecule MR1. Here, we report the discovery of a patient homozygous for a rare Arg31His (R9H in the mature protein) mutation in MR1 who has a history of difficult-to-treat viral and bacterial infections. MR1

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

References

  1. Nat Immunol. 2016 May;17(5):531-7 - PubMed
  2. J Immunol. 2015 Mar 15;194(6):2696-705 - PubMed
  3. SAGE Open Med Case Rep. 2019 Jun 19;7:2050313X19857416 - PubMed
  4. Scand J Immunol. 2014 Dec;80(6):462-3 - PubMed
  5. Sci Rep. 2016 Feb 03;6:20358 - PubMed
  6. J Clin Immunol. 2019 Aug;39(6):532-556 - PubMed
  7. Eur J Immunol. 2014 Oct;44(10):3119-28 - PubMed
  8. J Exp Med. 2015 Jun 1;212(6):855-64 - PubMed
  9. Cell. 2013 Jan 17;152(1-2):276-89 - PubMed
  10. Nat Immunol. 2020 Apr;21(4):400-411 - PubMed
  11. Acta Crystallogr D Biol Crystallogr. 2010 Feb;66(Pt 2):213-21 - PubMed
  12. Nat Commun. 2018 Jan 17;9(1):253 - PubMed
  13. Nat Commun. 2017 Mar 08;8:14599 - PubMed
  14. Blood. 2011 Jan 27;117(4):1250-9 - PubMed
  15. J Allergy Clin Immunol. 2012 Nov;130(5):1030-48 - PubMed
  16. Clin Immunol. 2006 Sep;120(3):310-8 - PubMed
  17. J Immunol. 2019 Sep 15;203(6):1468-1479 - PubMed
  18. Acta Crystallogr D Biol Crystallogr. 2011 Apr;67(Pt 4):235-42 - PubMed
  19. J Exp Med. 2012 Apr 9;209(4):761-74 - PubMed
  20. Acta Crystallogr D Biol Crystallogr. 2010 Jan;66(Pt 1):12-21 - PubMed
  21. Front Genet. 2017 Sep 22;8:130 - PubMed
  22. J Biol Chem. 2005 Jun 3;280(22):21183-93 - PubMed
  23. J Exp Med. 2013 Oct 21;210(11):2305-20 - PubMed
  24. Nature. 2020 May;581(7809):434-443 - PubMed
  25. Dermatol Ther (Heidelb). 2017 Dec;7(4):549-554 - PubMed
  26. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1518-23 - PubMed
  27. J Clin Microbiol. 2006 Nov;44(11):4157-62 - PubMed
  28. Nat Commun. 2018 Nov 9;9(1):4706 - PubMed
  29. Mucosal Immunol. 2017 Jan;10(1):58-68 - PubMed
  30. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347 - PubMed
  31. Science. 2019 Oct 25;366(6464):494-499 - PubMed
  32. Eur J Clin Chem Clin Biochem. 1996 Jun;34(6):517-20 - PubMed
  33. Science. 2019 Dec 20;366(6472):1522-1527 - PubMed
  34. Nat Commun. 2013;4:2142 - PubMed
  35. Nat Commun. 2018 May 2;9(1):1760 - PubMed
  36. mSphere. 2018 Dec 12;3(6): - PubMed
  37. Nat Immunol. 2016 Nov;17(11):1300-1311 - PubMed
  38. J Exp Med. 2017 Jul 3;214(7):1949-1972 - PubMed
  39. PLoS One. 2015 Nov 23;10(11):e0143199 - PubMed
  40. Mol Immunol. 2011 Feb;48(5):769-75 - PubMed
  41. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):E3119-28 - PubMed
  42. J Exp Med. 2014 Jul 28;211(8):1585-600 - PubMed
  43. Sci Immunol. 2018 Dec 21;3(30): - PubMed
  44. Science. 2015 Aug 7;349(6248):606-613 - PubMed
  45. Nature. 2012 Nov 29;491(7426):717-23 - PubMed
  46. Nat Commun. 2016 Jun 23;7:11653 - PubMed
  47. Acta Crystallogr D Biol Crystallogr. 2004 Dec;60(Pt 12 Pt 1):2126-32 - PubMed
  48. Acta Crystallogr D Biol Crystallogr. 2010 Feb;66(Pt 2):125-32 - PubMed
  49. Acta Crystallogr D Biol Crystallogr. 2007 Jan;63(Pt 1):32-41 - PubMed
  50. Nature. 2014 May 15;509(7500):361-5 - PubMed
  51. Nat Immunol. 2015 Nov;16(11):1114-23 - PubMed
  52. Nat Commun. 2019 Feb 8;10(1):687 - PubMed
  53. Vaccine. 2006 Mar 30;24 Suppl 1:S16-22 - PubMed

Publication Types

Grant support