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STK4 deficiency: A novel primary immunodeficiency affecting both innate and adaptive immunity and including cardiac defects

Wednesday, October 26, 2011 — Poster Session IV

2:00 p.m. – 4:00 p.m.

Natcher Conference Center




  • AA Schaffer
  • H Abdollahpour
  • G Appaswamy
  • R Beier
  • EM Gertz
  • A Schambach
  • HH Kreipe
  • D Pfeifer
  • KR Engelhardt
  • N Rezaei
  • B Grimbacher
  • S Lohrmann
  • R Sherkat
  • C Klein


We describe an unusual clinical phenotype associating intermittent neutropenia, progressive T- and B-cell lymphopenia, and atrial septal defects in three members of a consanguineous kindred. Homozygosity mapping and candidate gene sequencing revealed a mutation in the gene STK4 (formerly MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. i

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