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	NLM	IMMUNO/INFLAM-26

Authors

• 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

Abstract

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

back to top