Inherited biallelic CSF3R mutations in severe congenital neutropenia

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CS...

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Auteurs principaux: Triot, Alexa, Järvinen, Päivi M., Arostegui, Juan I., Murugan, Dhaarini, Kohistani, Naschla, Dapena Díaz, José Luis, Racek, Tomas, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Kotlarz, Daniel, Pfeifer, Dietmar, Díaz de Heredia Rubio, Cristina, Ozdemir, Mehmet Akif, Patiroglu, Turkan, Karakukcu, Musa, Sánchez de Toledo Codina, José, Yagüe, Jordi, Touw, Ivo P., Unal, Ekrem, Klein, Christoph
Format: Artigo
Langue:Inglês
Publié: American Society of Hematology 2014
Sujets:
Phagocytes, Granulocytes, and Myelopoiesis
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4055927/
https://ncbi.nlm.nih.gov/pubmed/24753537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-11-535419
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