A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

@article{Kong2010ANF,
  title={A novel form of human STAT1 deficiency impairing early but not late responses to interferons.},
  author={Xiao-fei Kong and Michael J Ciancanelli and Sami See Al-Hajjar and Laia Alsina and Timothy J. Zumwalt and Jacinta Bustamante and Jacqueline Feinberg and Magali Audry and Carolina Cardoso de Mello Prando and Vanessa L. Bryant and Alexandra Y. Kreins and Dusan Bogunovic and Rabih Halwani and Xin-Xin Zhang and Laurent Abel and Damien Chaussabel and Saleh Zaid Al-Muhsen and J. Hugo P{\'e}rez Casanova and St{\'e}phanie Boisson-Dupuis},
  journal={Blood},
  year={2010},
  volume={116 26},
  pages={5895-906}
}
Autosomal recessive STAT1 deficiency is associated with impaired cellular responses to interferons and susceptibility to intracellular bacterial and viral infections. We report here a new form of partial STAT1 deficiency in 2 siblings presenting mycobacterial and viral diseases. Both carried a homozygous missense mutation replacing a lysine with an asparagine residue at position 201 (K201N) of STAT1. This mutation causes the abnormal splicing out of exon 8 from most STAT1 mRNAs, thereby… CONTINUE READING

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