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Case Report Open Access
Volume 1 | Issue 1 | DOI: https://doi.org/10.46439/hematol.1.005

Activated phosphoinositide-3-kinase delta syndrome presenting with early onset (infantile) autoimmune thrombocytopenia

  • 1Department of Pediatrics, College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia
  • 2College of Science, Taif University, Saudi Arabia
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Corresponding Author

Amer Khojah M.D, Khojah.a@gmail.com, amkhojah@uqu.edu.sa

Received Date: August 18, 2022

Accepted Date: September 02, 2022

Abstract

Activated phosphoinositide-3-kinase delta syndrome (APDS) is an autosomal dominant immune dysregulation due to the gain of function mutation of phosphoinositide-3-kinase Delta (PI3Kδ). Patients with APDS typically present with recurrent infections, lymphoproliferation, autoimmunity, and increased risk for malignancies. Herein, we report a case of APDS who presents as an infant with thrombocytopenia at the age of 4 months. He was found to have anti-platelet antibodies. Therefore, he was diagnosed with Immune thrombocytopenic purpura (ITP) and was treated successfully with high dose intravenous immune globulin (IVIG). The patient’s immunology workup was notable for elevated IgM level, T-cell and NK cell lymphopenia with a decreased percentage of naïve CD4 and CD8 cells and a marked increase in transitional B cells, a hallmark of APDS. The genetic test revealed a pathogenic variant in the PIK3CD gene (c.3061G>A p.Glu1021Lys) consistent with APDS diagnosis.

Keywords

Activated phosphoinositide-3-kinase delta syndrome, PIK3CD gene, Autoimmune thrombocytopenia

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