Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Animals
Cysteine Endopeptidases
/ genetics
Disease Models, Animal
Female
Hereditary Autoinflammatory Diseases
/ diagnosis
Heterozygote
Humans
Hypertension, Pulmonary
/ diagnosis
Infant, Newborn
Male
Mice
Mice, Transgenic
Mutation, Missense
Pedigree
Primary Immunodeficiency Diseases
/ diagnosis
Proteasome Endopeptidase Complex
/ genetics
Syndrome
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
24 11 2021
24 11 2021
Historique:
received:
05
03
2021
accepted:
01
11
2021
entrez:
25
11
2021
pubmed:
26
11
2021
medline:
24
12
2021
Statut:
epublish
Résumé
Impaired proteasome activity due to genetic variants of certain subunits might lead to proteasome-associated autoinflammatory syndromes (PRAAS). Here we report a de novo heterozygous missense variant of the PSMB9 proteasome subunit gene in two unrelated Japanese infants resulting in amino acid substitution of the glycine (G) by aspartic acid (D) at position 156 of the encoded protein β1i. In addition to PRAAS-like manifestations, these individuals suffer from pulmonary hypertension and immunodeficiency, which are distinct from typical PRAAS symptoms. The missense variant results in impaired immunoproteasome maturation and activity, yet ubiquitin accumulation is hardly detectable in the patients. A mouse model of the heterozygous human genetic variant (Psmb9
Identifiants
pubmed: 34819510
doi: 10.1038/s41467-021-27085-y
pii: 10.1038/s41467-021-27085-y
pmc: PMC8613290
doi:
Substances chimiques
LMP-2 protein
144416-78-4
Cysteine Endopeptidases
EC 3.4.22.-
Proteasome Endopeptidase Complex
EC 3.4.25.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
6819Informations de copyright
© 2021. The Author(s).
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