The phenotype of human STK4 deficiency.
In: Blood, Jg. 119 (2012-04-12), Heft 15, S. 3450-3457
academicJournal
Zugriff:
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. Homozygos ity 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. [ABSTRACT FROM AUTHOR]
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The phenotype of human STK4 deficiency.
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Autor/in / Beteiligte Person: | Abdollahpour, Hengameh ; Appaswamy, Giridharan ; Kotlarz, Daniel ; Diestelhorst, Jana ; Beier, Rita ; Schäffer, Alejandro A. ; Gertz, E. Michael ; Schambach, Axel ; Kreipe, Hans H. ; Pfeifer, Dietmar ; Engelhardt, Karin R. ; Rezaei, Nima ; Grimbacher, Bodo ; Lohrmann, Sabine ; Sherkat, Roya ; Klein, Christoph |
Zeitschrift: | Blood, Jg. 119 (2012-04-12), Heft 15, S. 3450-3457 |
Veröffentlichung: | 2012 |
Medientyp: | academicJournal |
ISSN: | 0006-4971 (print) |
DOI: | 10.1182/blood-2011-09-378158 |
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