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Central European Journal of Immunology
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Review paper

Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review

Fang Cao
1
,
Yingyu Shi
1
,
Fang Deng
1
,
Yu Yan
1

  1. Anhui Provincial Children’s Hospital, China
Cent Eur J Immunol 2024; 49 (3)
DOI: https://doi.org/10.5114/ceji.2024.142340
Online publish date: 2024/09/20
Article file
- Novel IL2RG gene.pdf  [0.66 MB]
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19. Hsu AP, Pittaluga S, Martinez B, et al. (2015): IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. J Clin Immunol 35: 449-453.
20. Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, et al. (2020): The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype. Clin Exp Immunol 200: 61-72.
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Copyright: © 2024 Polish Society of Experimental and Clinical Immunology This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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