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Article

The phenotype of human STK4 deficiency.

Blood - 12 Apr 2012

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

Abstract excerpt

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 wart...

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Source

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Identifiers

PMID: 22294732
DOI: 10.1182/blood-2011-09-378158
PMCID: PMC3325036

Genes

STK4
MST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22294732-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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