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The phenotype of human STK4 deficiency
- 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.
- Subjects :
- Serine/threonine-specific protein kinase
0303 health sciences
Candidate gene
Immunology
Cell Biology
Hematology
Neutropenia
Biology
medicine.disease
Disease gene identification
Biochemistry
Atrial septal defects
3. Good health
03 medical and health sciences
Cyclic neutropenia
0302 clinical medicine
030220 oncology & carcinogenesis
medicine
Primary immunodeficiency
Congenital Neutropenia
030304 developmental biology
Subjects
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