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The phenotype of human STK4 deficiency

Authors :
Axel Schambach
Jana Diestelhorst
Hans Kreipe
Christoph Klein
Karin R. Engelhardt
Daniel Kotlarz
Giridharan Appaswamy
Dietmar Pfeifer
Roya Sherkat
Rita Beier
E. Michael Gertz
Alejandro A. Schäffer
Sabine Lohrmann
Nima Rezaei
Bodo Grimbacher
Hengameh Abdollahpour
Source :
Blood; Vol 119
Publication Year :
2012
Publisher :
American Society of Hematology, 2012.

Abstract

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.

Details

Language :
English
ISSN :
15280020
Volume :
119
Issue :
15
Database :
OpenAIRE
Journal :
Blood
Accession number :
edsair.doi.dedup.....0587da5d801fa17ba72fe69fe3b53101
Full Text :
https://doi.org/10.1182/blood-2011-09-378158