Journal article

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

Xiao-Fei Kong, Michael Ciancanelli, Sami Al-Hajjar, Laia Alsina, Timothy Zumwalt, Jacinta Bustamante, Jacqueline Feinberg, Magali Audry, Carolina Prando, Vanessa Bryant, Alexandra Kreins, Dusan Bogunovic, Rabih Halwani, Xin-Xin Zhang, Laurent Abel, Damien Chaussabel, Saleh Al-Muhsen, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis

Blood | Published : 2010


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 decreasing (by ~ 70%) STAT1 protein levels. The mutant STAT1 proteins are not intrinsically deleterious, in terms of tyrosine phosphorylation, dephosphorylation, homodimerization into γ-activating factor and ..

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University of Melbourne Researchers