Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia

Abstract
Summary: We investigated regulatory variants of five cytokine genes [tumour necrosis factor (TNF)‐α, interferon (IFN)‐γ, transforming growth factor (TGF)‐β, interleukin (IL)‐6 and IL‐10] in 40 Italian patients affected by paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA). Genotypes associated with high production of TGF‐β and IFN‐γ were more frequent in patients than in controls. Genetic regulation of the immunological pathways involved in the pathogenesis of bone marrow failure is suggested.

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