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Abstract Type 1 diabetes mellitus (T1DM) is a multifactorial autoimmune disease characterized by T cell mediated destruction of the insulin secreting β cells of the islets of Langerhans in the pancreas. The destructive process leads to severe insulin depletion and the clinical onset of T1DM occurs when more than 80% of the β cells have been destroyed. Protein tyrosine phosphatase non receptor type 22 (PTPN22) gene encodes lymphoid protein tyrosine phosphatase (LYP) and is considered to be a critical negative regulator of TCR signal transduction. A variant of PTPN22 (1858T) has been associated with the development and progression of T1DM. This variant is a single nucleotide change at residue 1858 from cytosine to thymidine, which results in a single amino acid substitution from arginine to tryptophan at position 620 of the Lyp protein (R620W) suggesting that the polymorphism confers a gain-of function form to the protein. The aim of This study was to analyze the PTPN22 C1858T gene polymorphism in Egyptian paediatric patients with type 1 diabetes and its association with diabetic complications. |