Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation

Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 dia...

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Detalles Bibliográficos
Autores principales: Al Sukaiti, Nashat, AbdelRahman, Khwater, AlShekaili, Jalila, Al Oraimi, Sumaya, Al Sinani, Aisha, Al Rahbi, Nasser, Cho, Vicky, Field, Matt, Cook, Matthew C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493589/
https://www.ncbi.nlm.nih.gov/pubmed/28690850
http://dx.doi.org/10.1038/cti.2017.20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493589/
https://www.ncbi.nlm.nih.gov/pubmed/28690850
http://dx.doi.org/10.1038/cti.2017.20

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