Novel compound heterozygous stop‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency

Novel compound heterozygous stop‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency

Abstract Background Lipopolysaccharide‐responsive and beige‐like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency (CVID), affecting 1:25,000–1:50,000 people worldwide. Biallelic mutations in the gene LRBA have been implicated in affected individuals. Methods We...

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Bibliografische gegevens
Hoofdauteurs: Anh N. L. Phan, Thuy T. T. Pham, Nghia Huynh, Tuan M. Nguyen, Cuc T. T. Cao, Duong T. Nguyen, Duc T. Le, Chi‐Bao Bui
Formaat: Artikel
Taal:English
Gepubliceerd in: Wiley 2020-05-01
Reeks:Molecular Genetics & Genomic Medicine
Onderwerpen:
antibody deficiency
chronic diarrhea
common variable immunodeficiency
LRBA
stop‐gain mutation
Online toegang:https://doi.org/10.1002/mgg3.1216

Internet

https://doi.org/10.1002/mgg3.1216

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