Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis
Boztug K, Järvinen P, Salzer E, Racek T, Mönch S, Garncarz W, Gertz E, Schäffer A, Antonopoulos A, Haslam S, Ziesenitz L, Puchalka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn J, Elling U, Pfeifer D, Welte K, Brandes G, Sherkat R, Van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanne-Chantelot C, Superti-Furga G, Bennett K, von Blume J, Dell A, Donadieu J, Klein C. Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis. Blood 2013, 122: 439. DOI: 10.1182/blood.v122.21.439.439.Peer-Reviewed Original ResearchSevere congenital neutropeniaSCN patientsAnalysis of patientsMyeloid cell homeostasisHomolog 1Survival of neutrophilsDistinct homozygous mutationsHomozygous mutation c.Receptor-mediated signalingOnly consistent findingNeutropenia AssociatedNeutrophil granulocytesPatientsCongenital neutropeniaComplete refractorinessClinical phenotypeNeutrophilsMature neutrophilsDevelopmental delayMarked reductionBiallelic mutationsAdditional studiesSkeletal abnormalitiesConsistent findingHomozygous mutation