The phenotype of human STK4 deficiency.
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ABSTRACT:
SUBMITTER: Abdollahpour H
PROVIDER: S-EPMC3325036 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Publications
The phenotype of human STK4 deficiency.
Abdollahpour Hengameh H Appaswamy Giridharan G Kotlarz Daniel D Diestelhorst Jana J Beier Rita R Schäffer Alejandro A AA Gertz E Michael EM Schambach Axel A Kreipe Hans H HH Pfeifer Dietmar D Engelhardt Karin R KR Rezaei Nima N Grimbacher Bodo B Lohrmann Sabine S Sherkat Roya R Klein Christoph C
Blood 20120131 15
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 ...[more]
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