The phenotype of human STK4 deficiency.

@article{Abdollahpour2012ThePO,
  title={The phenotype of human STK4 deficiency.},
  author={Hengameh Abdollahpour and Giridharan Appaswamy and Daniel Kotlarz and Jana Diestelhorst and Rita Beier and Alejandro A. Sch{\"a}ffer and E. Michael Gertz and Axel Schambach and Hans Kreipe and Dietmar Pfeifer and Karin R. Engelhardt and Nima Attaran Rezaei and Bodo Grimbacher and Sabine Lohrmann and Roya Sherkat and Christoph Klein},
  journal={Blood},
  year={2012},
  volume={119 15},
  pages={3450-7}
}
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol… CONTINUE READING

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Crucial role for Mst1 3456 ABDOLLAHPOUR et al BLOOD, 12 APRIL 2012 VOLUME 119, NUMBER 15 personal use only. For at NATIONAL INSTITUTES OF HEALTH

  • S Oh, D Lee, T Kim
  • LIB on April
  • 2012

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