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Expert Review of Hematology Volume 14, 2021 - Issue 9
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Original Research

PTPN22 gene polymorphism as a genetic risk factor for primary immune thrombocytopenia in Egyptian children

Mervat heshama Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Tamer Hassana Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Amal Fawzyb Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Noura Mohamedb Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Ebtihaj Alhejnya Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Manar Fathya Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
,
Sherief El Gebalya Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptView further author information
&
Marwa Zakariaa Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, EgyptCorrespondence[email protected]
View further author information
 show all
Pages 877-881 | Received 16 Jun 2020, Accepted 15 Oct 2020, Published online: 02 Nov 2020

References

  • Rodeghiero F, Stasi R, Gernsheimer T, et al. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: report from an international working group. Blood. 2009;113(11):2386–2393.
  • Consolini R, Legitimo A, Caparello MC. The centenary of immune thrombocytopenia − part 1: revising nomenclature and pathogenesis. Front Pediatr. 2016;4:102.
  • Aref S, El-Ghonemy MS, El-Aziz SA, et al. Impact of serum immunoglobulins level and IL-18 promoter gene polymorphism among Egyptian patients with idiopathic thrombocytopenic purpura. Hematology. 2017;22(2):99–104. .
  • Anis SK, Abdel Ghany EA, Mostafa NO, et al. The role of PTPN22 gene polymorphism in childhood immune thrombocytopenic purpura. Blood Coagul Fibrinolysis. 2011;22(6):521–525. .
  • Menard L, Saadoun D, Isnardi I, et al. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. J Clin Invest. 2011;121(9):3635–3644. .
  • Ge J, Li H, Gu D, et al. PTPN22-1123G> C polymorphism is associated with susceptibility to primary immune thrombocytopenia in Chinese population. Platelets. 2013;24(6):448–453. .
  • Cines DB, Bussel JB, Liebman HA, et al. The ITP syndrome: pathogenic and clinical diversity. Blood. 2009;113(26):6511–6521. .
  • Satoh T, Pandey JP, Okazaki Y, et al. Single nucleotide polymorphism of interleukin-1b associated with Helicobacter pylori infection in immune thrombocytopenic purpura. Tissue Antigens. 2009;73(4):353–357. .
  • Kyogoku C, Langefeld CD, Ortmann WA, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004;75(3):504–507. .
  • Andersen JN, Jansen PG, Echwald SM, et al. A genomic perspective on protein tyrosine phosphatases: gene structure, pseudogenes, and genetic disease linkage. Faseb J. 2004;18(1):8–30. .
  • Vang T, Congia M, Macis MD, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nature Genet. 2005;37(18):1317–1319. .
  • Elhoseiny SM, Morgan DS, Elhadidy KES. The association of lymphoid protein tyrosine phosphatase non-receptor 22 (PTPN22) gene polymorphism with Egyptian immune thrombocytopenic purpura. Comp Clin Pathol. 2013;22(3):395–402.
  • D’Silva KJ, Zamora MB, Gerlach J, et al. Increased representation of the PTPN22 mutation in patients with immune thrombocytopenia. J Thromb Haemost. 2010;8(9):2076–2078. .
  • Lioger B, Rollin J, Vayne C, et al. No impact of PTPN22, PTPRJ and ACP1 genes polymorphisms on the risk of immune thrombocytopenia in French adult patients. Thromb Res. 2016;144:76–78.

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