Immunological Evaluation of Patients with Fanconi Anemia

Fanconi anemia (FA) is a progressive bone marrow failure syndrome with multiple congenital anomalies and predisposition to various malignancies. Immune status of these patients has been investigated in a few studies. In our study we prospectively measured serum immunoglobulin (Ig) levels, and lymphocyte subgroup counts in 25 patients with FA. Median age of the patients was 12.5 years (1.5 – 27). Serum IgA and IgM levels were found to be low in 1 out of 25 patients. Lymphocyte subgroups were analyzed in 6 of the patients and two of them were found to have lower natural killer (NK) cell count than their age appropriates. In children with FA, NK cell counts are more frequently disturbed as the leading cellular defect while these patients usually have normal Ig levels.