A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome

Scand J Rheumatol. 2018 May;47(3):251-254. doi: 10.1080/03009742.2017.1342273. Epub 2017 Sep 12.

Authors

C Contreras-Cubas¹, A Cárdenas-Conejo², A Rodríguez-Velasco³, H García-Ortiz¹, L Orozco¹, V Baca⁴

Affiliations

¹ a Immunogenomics and Metabolic Diseases Laboratory , National Institute of Genomic Medicine , SS, Mexico City , Mexico.
² b Departament of Genetics , Pediatric Hospital Medical Center SXXI, IMSS , Mexico City , Mexico.
³ c Anatomic Pathology Service , Pediatric Hospital Medical Center SXXI, IMSS , Mexico City , Mexico.
⁴ d Department of Rheumatology , Pediatric Hospital Medical Center SXXI, IMSS , Mexico City , Mexico.

PMID: 28895430
DOI: 10.1080/03009742.2017.1342273

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
DNA / genetics*
DNA Mutational Analysis
Female
Hereditary Autoinflammatory Diseases / genetics*
Hereditary Autoinflammatory Diseases / metabolism
Homozygote
Humans
Major Histocompatibility Complex
Mutation*
Proteasome Endopeptidase Complex / genetics*
Proteasome Endopeptidase Complex / metabolism
Syndrome

Substances

DNA
LMP7 protein
Proteasome Endopeptidase Complex