The phenotype of human STK4 deficiency.

Blood 2012 Apr 31;119(15):3450-7. Epub 2012 Jan 31.

Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.

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 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. STK4 deficiency is a novel human primary immunodeficiency syndrome.

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http://dx.doi.org/10.1182/blood-2011-09-378158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325036PMC
April 2012
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