PedAM
Pediatric Disease Annotations & Medicines
| Disease | c3 deficiency |
| Phenotype | C0027947|neutropenia |
| Sentences | 4 |
| PubMedID- 24322501 | Herein, we describe inflammatory colitis in a 10-year-old girl with severe congenital neutropenia due to g6pc3 deficiency while she was on a high-dose filgrastim. |
| PubMedID- 20616219 | Thus, myelokathexis associated with abnormally high neutrophil cxcr4 expression may contribute to neutropenia in g6pc3 deficiency and responds well to granulocyte colony-stimulating factor. |
| PubMedID- 25391451 | Severe congenital neutropenia due to g6pc3 deficiency: early and delayed phenotype in two patients with two novel mutations. |
| PubMedID- 20498302 | Enhanced neutrophil er stress and apoptosis underlie neutropenia in g6pc3 deficiency, but the exact functional role of g6pase-beta in neutrophils remains unknown. |
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