| Autor: |
Yunus CATMA, Elif Sakci, Tugba Kalayci, Sevgi Kalayoglu Besisik |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Hematology, Transfusion and Cell Therapy, Vol 46, Iss , Pp 24- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2531-1379 |
| DOI: |
10.1016/j.htct.2024.04.041 |
| Popis: |
Case report: Severe congenital neutropenia is rare and usually diagnosed at childhood. G6PC3 deficiency emerge by mutation in glucose metabolism controlling genes as a syndromic variant. We here present a young adult case with unexplained neutropenia after kidney transplantation for FMF related AA amyloidosis. He had facial dismorphism, growth retardation, and atrial septal defect. Parents were relatives and he had recurrent infection history. Genetic screening revealed G6PC3 gene mutation in patient. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
