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Journal Articles

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Blood (2014) 123 (24): 3811–3817.

https://doi.org/10.1182/blood-2013-11-535419

Published: 2014

Includes: Supplemental data

Journal Articles

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, MD, Tomas Racek, PhD, Jacek Puchalka, Jose Luis Dapena Díaz, MD, Naschla Kohistani, MD, E. Michael Gertz, PhD, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, MD, Mehmet A. Ozdemir, MD, Turkan Patiroglu, MD, Musa Karakukcu, MD, José Sanchez de Toledo Codina, MD, Jordi Yagüe, MD, PhD, Ekrem Unal, Christoph Klein, MD PhD

Blood (2013) 122 (21): 1025.

https://doi.org/10.1182/blood.V122.21.1025.1025

Published: 2013

Journal Articles

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Blood (2013) 122 (21): 439.

https://doi.org/10.1182/blood.V122.21.439.439

Published: 2013

Journal Articles

The phenotype of human STK4 deficiency

Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz, Jana Diestelhorst, Rita Beier, Alejandro A. Schäffer, E. Michael Gertz, Axel Schambach, Hans H. Kreipe, Dietmar Pfeifer, Karin R. Engelhardt, Nima Rezaei, Bodo Grimbacher, Sabine Lohrmann, Roya Sherkat, Christoph Klein

Blood (2012) 119 (15): 3450–3457.

https://doi.org/10.1182/blood-2011-09-378158

Published: 2012

Includes: Supplemental data

Journal Articles

The Phenotype of Human STK4 Deficiency

Hengameh Abdollahpour, MD, PhD, Giridharan Appaswamy, PhD, Rita Beier, MD, Alejandro A. Schäffer, PhD, E. Michael Gertz, PhD, Hans H. Kreipe, MD, Dietmar Pfeifer, PhD, Bodo Grimbacher, MD, Sabine Lohrmann, MD, Roya Sherkat, MD, Christoph Klein, MD, PhD

Blood (2011) 118 (21): 692.

https://doi.org/10.1182/blood.V118.21.692.692

Published: 2011

Journal Articles

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Blood (2009) 113 (9): 1967–1976.

https://doi.org/10.1182/blood-2008-02-141937

Published: 2009

Includes: Supplemental data

NARROW

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

The phenotype of human STK4 deficiency

The Phenotype of Human STK4 Deficiency

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Email alerts

ASH Publications

American Society of Hematology

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

The phenotype of human STK4 deficiency

The Phenotype of Human STK4 Deficiency

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Email alerts

ASH Publications

American Society of Hematology

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