[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)]. / Klinik und Genetik bei Proteasomen-assoziierten autoinflammatorischen Syndromen (PRAAS).
Z Rheumatol
; 76(4): 328-334, 2017 May.
Article
de De
| MEDLINE
| ID: mdl-28124745
ABSTRACT
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the induction of type I interferon (IFN) genes seem to play a role in the pathogenesis. The typical clinical manifestations are lipodystrophy, skin, joint and muscle involvement accompanied by a remarkable variability of other associated symptoms. This article provides an overview on currently known molecular alterations as well as clinical similarities and differences of PRAAS. Furthermore, the reported effects of the immunosuppressive therapy approaches used so far are summarized.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Interféron de type I
/
Cytokines
/
Proteasome endopeptidase complex
/
Maladies auto-inflammatoires héréditaires
/
Inflammasomes
/
Lipodystrophie
Type d'étude:
Risk_factors_studies
Limites:
Humans
Langue:
De
Journal:
Z Rheumatol
Année:
2017
Type de document:
Article