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Volume 16, Issue 2 (3-2026)
Iran J Ped Hematol Oncol 2026, 16(2): 868-878 |
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Khalili A. Immune Thrombocytopenic Purpura in Patients with Inborn Errors of Immunity: A Narrative Review. Iran J Ped Hematol Oncol 2026; 16 (2) :868-878
URL: http://ijpho.ssu.ac.ir/article-1-935-en.html
URL: http://ijpho.ssu.ac.ir/article-1-935-en.html
Department of Pediatrics, Shahid Sadughi Haspital, Shahid Saduoghi University of Medical Sciences, Yazd, Iran 2. Hematology and Oncology Research Center, Noncommunicable Diseases Research Institute, Shahid Saduoghi University of Medical Sciences, Yazd, Iran 3. Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran & Department of Pediatrics, Shahid Sadughi Haspital, Shahid Saduoghi University of Medical Sciences, Yazd, Iran
Abstract: (45 Views)
Immune thrombocytopenic purpura (ITP) is one of the autoimmune disorders characterized by isolated thrombocytopenia due to immune-mediated platelet destruction. The pathogenesis of ITP is complex, involving autoantibodies against platelet glycoproteins (GPIIb/IIIa, GPIb/IX), excessive T helper1, T helper10, Thelper17 (TH1-TH0-TH17) polarization, Treg cell deficiency, and cytotoxic destruction of platelets. Cytotoxic CD8+ T-cell-mediated platelet lysis is evidenced by perforin/granzyme release in bone marrow biopsies. The diagnosis is based on excluding the other causes of thrombocytopenia, often following common viral infections. Immune thrombocytopenia can be categorized into primary and secondary groups. Secondary immune thrombocytopenia is linked with inborn errors of immunity (IEI). These errors are heterogeneous disorders with extensive clinical presentations, ranging from recurrent infections to immune dysregulation and autoimmunity. Studies have showed that autoimmune disorders are common manifestations among patients with IEI. Approximately 25-33% of IEI patients have autoimmunity disorders, including ITP, with ~20% of chronic ITP and 40% of pediatric Evans syndrome. Sometimes, patients with ITP may progress to primary immunodeficiency in the future because they may have an undiagnosed underlying IEI. Furthermore, the evaluation of patients with ITP for possible IEI, based on a history of recurrent infections and physical examinations, is essential. The prevalence of ITP is 16.2% in common variable immunodeficiency (CVID), 72% in Wiskott Aldrich syndrome (WAS), and high in autoimmune lymphoproliferative syndrome (ALPS) and LPS-responsive beige-like anchor (LRBA) / cytotoxic T-lymphocyte associated protein 4 (CTLA-4) deficiencies. IEI-associated ITP is often severe, chronic, and refractory, thus increasing morbidity. The treatments include corticosteroids, intravenous immunoglobulin (IVIG), rituximab, and targeted therapies like sirolimus. Recent studies highlight the genetic defects (e.g., FAS, CTLA4) that drive ITP, enabling precision medicine. This review study explains the recent advances in IEI-associated ITP, focusing on clinical features, pathogenesis, prevalence, and management. It also emphasizes early IEI screening for improved outcomes.
Keywords: Autoimmunity, Cytopenia, Immunologic deficiency syndromes, Immune thrombocytopenic purpura, Primary immunodeficiency diseases
Type of Study: Review |
Subject:
Hematology
Received: 2025/02/4 | Accepted: 2026/03/30 | Published: 2026/03/30
Received: 2025/02/4 | Accepted: 2026/03/30 | Published: 2026/03/30
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