2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nature Genetics 2014, 46: 1021-1027. PMID: 25129144, PMCID: PMC4829076, DOI: 10.1038/ng.3069.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultApoptosisCell DifferentiationCell SurvivalChildChild, PreschoolCongenital Bone Marrow Failure SyndromesFemaleGlycosylationHomeostasisHumansInfantInfant, NewbornMaleMembrane ProteinsMutationMyeloid CellsNeutropeniaNeutrophilsReceptors, Granulocyte Colony-Stimulating FactorSignal TransductionYoung Adult
2013
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