Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Background: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is characterized by autoimmunity, chronic diarrhea, and immunodeficiency. Minor renal manifestations have been found in a few patients, but kidney disease has not been systematically studied and may remain unde...

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Detalles Bibliográficos
Autores principales: Taylan, Christina, Wenzel, Andrea, Erger, Florian, Göbel, Heike, Weber, Lutz T., Beck, Bodo B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078106/
https://www.ncbi.nlm.nih.gov/pubmed/32219082
http://dx.doi.org/10.3389/fped.2020.00042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078106/
https://www.ncbi.nlm.nih.gov/pubmed/32219082
http://dx.doi.org/10.3389/fped.2020.00042

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