Immune Thrombocytopenia: Immune Dysregulation and Genetic Perturbations Deciphering the Fate of Platelets

Tariq Z. Qadeer M.I. Zahid K. Cherepkova E.V. Olzhayev S.T.
1 October 2024 IMR Press Limited

Frontiers in Bioscience - Landmark
2024 #29 Issue 10

Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder. It involves impaired production and excessive destruction of platelets. It is a complex and heterogeneous disorder with unknown pathophysiology. Both genetic and immunologic perturbations have been implicated in the disease pathogenesis. Immune dysregulations involve both the humoral and cellular immunity. Attack of antiplatelet autoantibodies has been found to be the fundamental cause of platelet destruction. Other mechanisms including T cell mediated platelet destruction, complement activation, apoptosis, and desialylation have also been found in the development of ITP. Genetic testing has revealed various predispositions including single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and epigenetic changes in the immunoregulatory genes of ITP subjects. Varying methylation patterns have also been found in the immune-related genes. This review summarizes the dysregulated immune cells, immunologic cascades, altered signaling pathways, genetic mutations and epigenetic changes in ITP pathogenesis. These alterations induce autoimmune responses against the platelets resulting in complex bleeding manifestations and onset of ITP. Copyright:

autoimmune , genetic , immune thrombocytopenia , immunologic , platelets , polymorphisms

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Department of Biotechnology, Kinnaird College for Women University, Lahore, 54000, Pakistan
Sundas Foundation Hematological and Molecular Analysis Center, Lahore, 54000, Pakistan
Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54000, Pakistan
All-Russian Research Institute for Civil Defence and Emergencies, Moscow, 121352, Russian Federation
Department of Oncology, Kazakh-Russian Medical University, Almaty, 050004, Kazakhstan

Department of Biotechnology
Sundas Foundation Hematological and Molecular Analysis Center
Department of Microbiology and Molecular Genetics
All-Russian Research Institute for Civil Defence and Emergencies
Department of Oncology

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