JCHOR
Journal of Current Hematology & Oncology Research

The Journal of Current Hematology & Oncology Research regularly publishes internationally qualified research in hematology and oncology within the current scholarly knowledge.

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Case Report
Development of common variable immunodeficiency in a patient with severe aplastic anemia: a case report
Abstract
Severe aplastic anemia (AA) and common variable immunodeficiency (CVID) are distinct clinical entities that may rarely coexist due to shared molecular mechanisms. This report describes a 43-year-old male patient diagnosed with severe AA who subsequently developed CVID associated with an IKZF1 gene variant. Bone marrow examination confirmed severe hypocellularity. Although initial immunosuppressive therapy failed to achieve transfusion independence, hematologic recovery was obtained with eltrombopag. Approximately one year later, immunologic evaluation demonstrated hypogammaglobulinemia (IgA 0,7 g/L, IgM 0,63 g/L, IgG 4,78 g/L) and marked B-cell lymphopenia (total lymphocytes 1,990/mm³; B cells 100/mm³) with preserved T-cell counts. Genetic analysis revealed a heterozygous IKZF1 (c.115A>G, p.Thr39Ala) variant, supporting the diagnosis of CVID. This case highlights the importance of integrating genetic evaluation into the diagnostic work-up of patients presenting with combined hematologic and immunologic abnormalities, enabling accurate classification, appropriate management, and long-term follow-up.

Keywords : Aplastic anemia, common variable immunodeficiency, IKZF1 gene

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Article available in :
Volume 4, Issue 1, 2026
Page : 25-26
https://doi.org/10.51271/JCHOR-0077
Article Information
Received : 02 Oca 2026
Accepted : 14 Şub 2026
Published : 25 Şub 2026
Corresponding Author :

İzel Özgören: Department of Internal Medicine, Faculty of Medicine, Aydın Adnan Menderes University, Aydın, Turkiye

[email protected]
Citation : Özgören İ, Yavaşoğlu İ. Development of common variable immunodeficiency in a patient with severe aplastic anemia: a case report. J Curr Hematol Oncol Res. 2026;4(1):25-26.

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