Vol 53, No 1 (2022)
Clinical vignette
Published online: 2022-02-23

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Class switch recombination defect in child with ataxia–telangiectasia with hyper IgM phenotype

Eman Gamal Baz1, Mohamed Almalky1, Tarek A. Abdelaziz1
Acta Haematol Pol 2022;53(1):69-71.

Abstract

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References

  1. Mohammadinejad P, Abolhassani H, Aghamohammadi A, et al. Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM. J Immunoassay Immunochem. 2015; 36(1): 16–26.
  2. Azarsiz E, Karaca NE, Gunaydin NC, et al. Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? Int J Immunopathol Pharmacol. 2014; 27(3): 421–427.
  3. Razaghian A, Ziaee V, Momen T, et al. Misclassification of ataxia telangiectasia with hyper IgM immune profile. Immunol Genet J. 2019; 2(3): 53–57.
  4. Notarangelo LD, Lanzi G, Toniati P, et al. Defects of class-switch recombination. J Allergy Clin Immunol. 2006; 117(4): 855–864.
  5. Reina-San-Martin B, Chen HT, Nussenzweig A, et al. ATM is required for efficient recombination between immunoglobulin switch regions. J Exp Med. 2004; 200(9): 1103–1110.
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