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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
Journal Article
12/2010
Background: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenic, early onset infections and additional... 
Severe congenital neittropenia | Renal malformation | G6PC3 | Cardiac malformation | Mutation
Web Resource
Current Opinion in Hematology, ISSN 1065-6251, 01/2012, Volume 19, Issue 1, pp. 44 - 51
Journal Article
Current Opinion in Allergy and Clinical Immunology, ISSN 1528-4050, 12/2013, Volume 13, Issue 6, pp. 596 - 606
PURPOSE OF REVIEWThe purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of... 
X-linked neutropenia | Severe congenital neutropenia | Vacuolar protein sorting 45 homolog | Haematopoietic cell specific LYN substrate 1 associated protein X-1 | Elastase neutrophil expressed | Glucose 6 phosphatase catalytic subunit 3 | Growth factor independent 1 transcription repressor | growth factor independent 1 transcription repressor | vacuolar protein sorting 45 homolog | COLONY-STIMULATING-FACTOR | glucose 6 phosphatase catalytic subunit 3 | ANTI-APOPTOTIC PROTEIN | ACTIN POLYMERIZATION | CARTILAGE-HAIR HYPOPLASIA | elastase neutrophil expressed | haematopoietic cell specific LYN substrate 1 associated protein X-1 | IMMUNOLOGY | HERMANSKY-PUDLAK-SYNDROME | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | ALLERGY | ORIGINAL KOSTMANN FAMILY | GRISCELLI SYNDROME | INTRACELLULAR PROTEIN | severe congenital neutropenia | Glucose-6-Phosphatase - genetics | Neutropenia - metabolism | Vesicular Transport Proteins - metabolism | Humans | Biological Transport, Active - genetics | Endoplasmic Reticulum Stress - genetics | Endoplasmic Reticulum Stress - immunology | Neutropenia - congenital | DNA-Binding Proteins - metabolism | Biological Transport, Active - immunology | Adaptor Proteins, Signal Transducing - immunology | Membrane Potential, Mitochondrial - genetics | Neutropenia - pathology | Neutropenia - genetics | Transcription Factors - immunology | Neutrophils - metabolism | Vesicular Transport Proteins - immunology | Neutropenia - immunology | Neutrophils - pathology | DNA-Binding Proteins - immunology | Unfolded Protein Response - genetics | Vesicular Transport Proteins - genetics | Neutrophils - immunology | Glucose-6-Phosphatase - immunology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Glucose-6-Phosphatase - metabolism | Transcription Factors - metabolism | Unfolded Protein Response - immunology | Membrane Potential, Mitochondrial - immunology | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Neutropenia - physiopathology
Journal Article