Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

@article{Zhang2014SynergisticDO,
  title={Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.},
  author={Kejian Zhang and Shanmuganathan Chandrakasan and Heather M. Chapman and C. Alexander Valencia and Ammar Husami and Diane K Kissell and Judith A. Johnson and Alexandra H. Filipovich},
  journal={Blood},
  year={2014},
  volume={124 8},
  pages={1331-4}
}
Several molecules (LYST, AP3, RAB27A, STX11, STXBP2, MUNC13-4, and PRF1) have been associated with the function of cytotoxic lymphocytes. Biallelic defects in all of these molecules have been associated with familial hemophagocytic lymphohistiocytosis (FHL). We retrospectively reviewed the genetic and immunology test results from 2701 patients with a clinically suspected diagnosis of hemophagocytic lymphohistiocytosis and found 28 patients with single heterozygous mutations in 2 FHL-associated… CONTINUE READING

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