Tumor necrosis factor-alpha overproduction in Fanconi's anemia

Am J Hematol. 1993 Feb;42(2):196-201. doi: 10.1002/ajh.2830420211.


Various in vitro studies and clinical observations suggest that Fanconi's anemia (FA) patients are unable to detoxify adequately superoxide anions (O2-) released by activated phagocytes. Recent studies have shown that certain lymphokines such as tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma) can significantly enhance O2- production by phagocytic cells. To ascertain lymphokine production in FA patients, we measured TNF-alpha and IFN-gamma production in vivo and in vitro. TNF-alpha was detected in the plasma of 16 of 18 FA patients with concentrations ranging from 6 to 131 pg/ml (mean 31 pg/ml). TNF-alpha was detected in only one of 25 control (healthy donor) plasma, and the level was very low (7 pg/ml). IFN-gamma levels in normal and patient plasma were negligible. Spontaneous and phytohemagglutinin (PHA)-induced production of IFN-gamma and TNF-alpha by cultured peripheral blood mononuclear cells did not differ significantly between FA patients and normal controls. The significance of overproduction of TNF-alpha in vivo in the pathophysiology of FA is discussed.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Bone Marrow / metabolism
  • Child
  • Child, Preschool
  • Fanconi Anemia / blood
  • Fanconi Anemia / metabolism*
  • Female
  • Humans
  • Interferon-gamma / biosynthesis
  • Interferon-gamma / blood
  • Male
  • Monocytes / metabolism
  • Phytohemagglutinins / pharmacology
  • Tumor Necrosis Factor-alpha / biosynthesis*
  • Tumor Necrosis Factor-alpha / metabolism


  • Phytohemagglutinins
  • Tumor Necrosis Factor-alpha
  • Interferon-gamma