Information on PRAAS6
Basic details
Name: Proteasome-associated autoinflammatory syndrome 6 | Acronym: PRAAS6
Alt. names: PSMB9 GOF
Gene: PSMB9 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
Only 3 patients reported to date. The condition is clinically characterized by severe periodic autoinflammation (neonatal-onset fever, skin rash, myositis), severe pulmonary hypertension, basal ganglia calcification, and immunodeficiency. It can be conidered like a partial phenocopy of PRAAS. It is biologically characterized by elevated levels of inflammatory cytokines (IL-6, IL-18, IP-10, IFN ), liver enzymes in blood and CSF (IFN ), hyperactivation of IFN-alpha, pSTAT1, and reduced proteasome activities. (PMID:34819510)
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.