Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Abstract Background A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-...

Full description

Bibliographic Details
Main Authors: Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall, C.I. Edvard Smith
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Pediatrics
Subjects:
Congenital disorder of glycosylation
Hyper-IgE
N-acetylglucosamine-phosphate mutase
PGM3 enzyme activity
Phosphoglucomutase 3
Primary immunodeficiency
Online Access:http://link.springer.com/article/10.1186/s12887-018-1258-9

Internet

http://link.springer.com/article/10.1186/s12887-018-1258-9

Similar Items