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Ahead of print
Clinical vignette
Submitted: 2021-08-12
Accepted: 2021-08-31
Published online: 2021-11-08
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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
DOI: 10.5603/AHP.a2021.0101
Affiliations
  1. Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, 44519, Zagazig, Egypt

open access

Ahead of print
CLINICAL VIGNETTE
Submitted: 2021-08-12
Accepted: 2021-08-31
Published online: 2021-11-08

Abstract

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease characterized by cerebellar ataxia, ocular and/or cutaneous telangiectasia, immune deficiency, enhanced radiosensitivity, and susceptibility to malignancy. It is caused by mutations in the AT mutated (ATM) gene. Hyper-IgM phenotypes are characterized by a class-switch recombination defect, IgG and IgA deficiencies, immune dysregulation, and lymphoproliferative disorders. In this case report, a 6.5-year-old Egyptian A-T female had progressive hepatosplenomegaly, hypersplenism, generalized lymphadenopathy, and high levels of IgM. This patient had a class switch recombination defect (CSRD), leading to the diagnosis of HIgM-phenotype of ataxia-telangiectasia with class switch defect (HIgM AT-CSD). In reporting this case, we hope to highlight its rarity and complexity in a pediatric patient with AT, as well as the potential role of an appropriate diagnostic assessment in achieving successful clinical outcomes. The presence of hepatosplenomegaly and lymphadenopathy in AT suggests malignancy or infection, but after exclusion of these causes, pediatricians must consider HIgM AT-CSD as a possible cause of lymphoproliferation.

Abstract

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease characterized by cerebellar ataxia, ocular and/or cutaneous telangiectasia, immune deficiency, enhanced radiosensitivity, and susceptibility to malignancy. It is caused by mutations in the AT mutated (ATM) gene. Hyper-IgM phenotypes are characterized by a class-switch recombination defect, IgG and IgA deficiencies, immune dysregulation, and lymphoproliferative disorders. In this case report, a 6.5-year-old Egyptian A-T female had progressive hepatosplenomegaly, hypersplenism, generalized lymphadenopathy, and high levels of IgM. This patient had a class switch recombination defect (CSRD), leading to the diagnosis of HIgM-phenotype of ataxia-telangiectasia with class switch defect (HIgM AT-CSD). In reporting this case, we hope to highlight its rarity and complexity in a pediatric patient with AT, as well as the potential role of an appropriate diagnostic assessment in achieving successful clinical outcomes. The presence of hepatosplenomegaly and lymphadenopathy in AT suggests malignancy or infection, but after exclusion of these causes, pediatricians must consider HIgM AT-CSD as a possible cause of lymphoproliferation.

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Keywords

ataxia-telangiectasia, HIgM AT-CSD, CSRD, lymphoproliferation

About this article
Title

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

Journal

Acta Haematologica Polonica

Issue

Ahead of print

Article type

Clinical vignette

Published online

2021-11-08

DOI

10.5603/AHP.a2021.0101

Keywords

ataxia-telangiectasia
HIgM AT-CSD
CSRD
lymphoproliferation

Authors

Eman Gamal Baz
Mohamed Almalky
Tarek A. Abdelaziz

References (6)
  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.
  6. Elsidig N, Alshahrani D, Alshehri M, et al. Bacillus Calmette-Guérin vaccine related lymphadenitis in children: Management guidelines endorsed by the Saudi Pediatric Infectious Diseases Society (SPIDS). Int J Pediatr Adolesc Med. 2015; 2(2): 89–95.

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