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Current Opinion in Hematology, ISSN 1065-6251, 01/2019, Volume 26, Issue 1, pp. 34 - 40
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 10/2019, Volume 66, Issue 10, pp. e27923 - n/a
Journal Article
Journal of Leukocyte Biology, ISSN 0741-5400, 12/2018, Volume 104, Issue 6, pp. 1199 - 1213
Mutations in the gene JAGN1 were recently discovered in patients with severe congenital neutropenia (SCN). Neutrophils release neutrophil extracellular traps... 
JAGN1 | myeloperoxidase | neutrophil extracellular traps | severe congenital neutropenia | NADPH OXIDASE | APOPTOSIS | COLONY-STIMULATING FACTOR | HL-60 CELLS | IMMUNOLOGY | DEFICIENCY | CELL BIOLOGY | DEFECTIVE EXPRESSION | KOSTMANN-SYNDROME | ENDOPLASMIC-RETICULUM | MUTATIONS | HEMATOLOGY | Index Medicus
Journal Article
Pediatric Transplantation, ISSN 1397-3142, 02/2018, Volume 22, Issue 1, pp. e13078 - n/a
Journal Article
12/2010
Background: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenic, early onset infections and additional... 
Renal malformation | Severe congenital neittropenia | G6PC3 | Cardiac malformation | Mutation
Web Resource
Pediatric Blood & Cancer, ISSN 1545-5009, 01/2019, Volume 66, Issue 1, pp. e27473 - n/a
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to... 
infection | myelofibrosis | severe combined neutropenia | bone marrow transplantation | ONCOLOGY | TRAFFICKING | PEDIATRICS | HEMATOLOGY | Bone marrow | Genetic aspects | Transplantation | Genetic disorders | Neutropenia
Journal Article
Journal of Internal Medicine, ISSN 0954-6820, 10/2008, Volume 264, Issue 4, pp. 388 - 400
Journal Article
Clinical Immunology, ISSN 1521-6616, 06/2019, Volume 203, pp. 53 - 58
Severe congenital neutropenia caused by gene mutation is a rare disease. To date, only four families were reported with mosaicism. Here we examined the... 
Severe congenital neutropenia | Mosaicism | Reactive oxygen species | IMMUNOLOGY | ELASTASE | Oxidases | Medical research | Medical colleges | Genetic disorders | Gene mutations | Analysis | Medical genetics | Medicine, Experimental | Genetic research | Development and progression | Genetic aspects | Neutropenia
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 02/2019, Volume 10, pp. 116 - 116
High frequency of acquired CSF3R (colony stimulating factor 3 receptor, granulocyte) mutations has been described in patients with severe congenital... 
COLONY-STIMULATING-FACTOR | TRANSFORMATION | CELLS | FACTOR-RECEPTOR GENE | G-CSFR mutations | pre-leukemia | ACUTE MYELOID-LEUKEMIA | IMMUNOLOGY | POINT MUTATIONS | leukemogenesis | ACTIVATING MUTATION | GRANULOPOIESIS | deep-sequencing | severe congenital neutropenia | EXPRESSION
Journal Article
Haematologica, ISSN 0390-6078, 01/2005, Volume 90, Issue 1, pp. 45 - 53
Journal Article
British Journal of Haematology, ISSN 0007-1048, 08/2012, Volume 158, Issue 3, pp. 363 - 369
Journal Article