The phenotype of human STK4 deficiency

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,...

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2012
Schlagworte:
Immunobiology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3325036/
https://ncbi.nlm.nih.gov/pubmed/22294732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-09-378158
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