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

• Main Authors: Karin E. Lundin (Author), Qing Wang (Author), Abdulrahman Hamasy (Author), Per Marits (Author), Mehmet Uzunel (Author), Valtteri Wirta (Author), Ann-Charlotte Wikström (Author), Anders Fasth (Author), Olov Ekwall (Author), C.I. Edvard Smith (Author)
• Format: Book
• Published: BMC, 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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-...