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

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-mutation...

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Detalles Bibliográficos
Autores principales: Lundin, Karin E., Wang, Qing, Hamasy, Abdulrahman, Marits, Per, Uzunel, Mehmet, Wirta, Valtteri, Wikström, Ann-Charlotte, Fasth, Anders, Ekwall, Olov, Smith, C.I. Edvard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114780/
https://www.ncbi.nlm.nih.gov/pubmed/30157810
http://dx.doi.org/10.1186/s12887-018-1258-9

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