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Journal of Clinical Immunology

, Volume 38, Issue 7, pp 742–744 | Cite as

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis

  • Tamar S. Rubin
  • Cheryl Rockman-Greenberg
  • Paul Van Caeseele
  • Geoffrey D.E. Cuvelier
  • Luvinia Kwan
  • Marlis L. Schroeder
Letter to Editor
  • 37 Downloads

To the Editor,

IKBKB deficiency is a rare combined immune deficiency found in the Northern Cree, where T cells develop, but are non-functional [1]. Although IKBKB deficiency is not technically a form of severe combined immune deficiency (SCID), these patients present with severe, early onset infections, clinically similar to patients with classic SCID, and respond to therapy with hematopoietic stem cell transplantation. IKBKB deficiency has been genetically confirmed or highly suspected in 16 Northern Cree individuals, who share a homozygous mutation (c.1292dupG), and originate from several remote communities in Manitoba and Saskatchewan (manuscript in submission).

Newborn screening by quantitative analysis of T cell receptor excision circles (TRECs) has become the accepted assay to facilitate early diagnosis of most forms of SCID, since most affected newborns will not make TRECs. However, not all genetic forms of severe immune deficiencies are identified by TREC analysis. This...

Notes

Compliance with Ethical Standards

University of Manitoba Research Ethics Board approval was obtained

Conflict of Interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. New Engl J Med. 2013;369(26):2504–14.CrossRefGoogle Scholar
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    Grazioli S, Bennett M, Hildebrand KJ, Vallance H, Turvey SE, Junker AK. Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency. Clin Immunol. 2014;153(1):209–10.CrossRefGoogle Scholar
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    Jilkina O, Thompson JR, Kwan L, Van Caeseele P, Rockman-Greenberg C, Schroeder ML, et al. Retrospective TREC testing of newborns with severe combined immunodeficiency and other primary immunodeficiency diseases. Mol Genet Metab Rep. 2014;1:324–33.CrossRefGoogle Scholar
  4. 4.
    Thompson JR, Greenberg CR, Dick A, Jilkina O, Kwan L, Rubin TS, et al. Development of a population-based newborn screening method for severe combined immunodeficiency in Manitoba, Canada. Int J Neonatal Screen. 2018;4:19.CrossRefGoogle Scholar
  5. 5.
    Nielsen C, Jakobsen MA, Larsen MJ, Muller AC, Hansen S, Lillevang ST, et al. Immunodeficiency associated with a nonsense mutation of IKBKB. J Clin Immunol. 2014;34:916–21.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Tamar S. Rubin
    • 1
  • Cheryl Rockman-Greenberg
    • 1
    • 2
  • Paul Van Caeseele
    • 1
    • 3
  • Geoffrey D.E. Cuvelier
    • 1
    • 4
  • Luvinia Kwan
    • 5
  • Marlis L. Schroeder
    • 1
    • 2
  1. 1.Department of Pediatrics & Child HealthUniversity of ManitobaWinnipegCanada
  2. 2.Children’s Hospital Research Institute of ManitobaWinnipegCanada
  3. 3.Cadham Provincial LaboratoryWinnipegCanada
  4. 4.Manitoba Blood and Marrow Transplant ProgramCancerCare ManitobaWinnipegCanada
  5. 5.HLA laboratoryCancerCare ManitobaWinnipegCanada

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