Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

@article{Kumnovics2010RapidMA,
  title={Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.},
  author={Attila Kum{\'a}novics and Carl T. Wittwer and Robert J. Pryor and Nancy H. Augustine and Mark F. Leppert and John C Carey and Hans D. Ochs and Ralph Wedgwood and Ralph J Faville and Paul G. Quie and Harry Raymond Hill},
  journal={The Journal of molecular diagnostics : JMD},
  year={2010},
  volume={12 2},
  pages={213-9}
}
With the recent discovery of mutations in the STAT3 gene in the majority of patients with classic Hyper-IgE syndrome, it is now possible to make a molecular diagnosis in most of these cases. We have developed a PCR-based high-resolution DNA-melting assay to scan selected exons of the STAT3 gene for mutations responsible for Hyper-IgE syndrome, which is then followed by targeted sequencing. We scanned for mutations in 10 unrelated pedigrees, which include 16 patients with classic Hyper-IgE… CONTINUE READING