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Inherited biallelic CSF3R mutations in severe congenital neutropenia

2014; Elsevier BV; Volume: 123; Issue: 24 Linguagem: Inglês

10.1182/blood-2013-11-535419

1528-0020

Alexa Triot, Päivi M. Järvinen, Juan I. Aróstegui, Dhaarini Murugan, Naschla Kohistani, José Luís Dapena, Tomáš Raček, Jacek Puchałka, E. Michael Gertz, Alejandro A. Schäffer, Daniel Kotlarz, Dietmar Pfeifer, Cristina Díaz de Heredia, Mehmet Akif Özdemir, Türkan Patıroğlu, Musa Karakükçü, José Sánchez de Toledo Codina, Jordi Yagüe, Ivo P. Touw, Ekrem Ünal, Christoph Klein,

Immunodeficiency and Autoimmune Disorders

Key Points Biallelic mutations in CSF3R must be considered as a novel genetic subtype in patients with congenital neutropenia. The p.Arg308Cys mutation in CSF3R leads to altered G-CSF receptor glycosylation and surface expression and abrogated downstream signaling.