Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease

XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in MAGT1 which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte activation. XMEN patients are susceptible to Epst...

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Detalles Bibliográficos
Autores principales: Watson, Christopher M., Nadat, Fatima, Ahmed, Sammiya, Crinnion, Laura A., O’Riordan, Sean, Carter, Clive, Savic, Sinisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042700/
https://www.ncbi.nlm.nih.gov/pubmed/35264785
http://dx.doi.org/10.1038/s41435-022-00166-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042700/
https://www.ncbi.nlm.nih.gov/pubmed/35264785
http://dx.doi.org/10.1038/s41435-022-00166-8

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