İzel ÖZGÖREN, İrfan YAVAŞOĞLU
Journal of Current Hematology & Oncology Research - 2026;4(1):25-26
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.
