Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Increased circulating interferon-gamma concentration, Seizure, and Increased circulating troponin T concentration and others; and common findings: Increased circulating interleukin 1beta concentration, Liver scarring (cirrhosis) (cirrhosis), Elevated circulating tumor necrosis factor alpha concentration, and Portal hypertension and others. 39 total HPO annotations.

PSMB9 function has not been fully characterized.

Proteasome-associated autoinflammatory syndrome 6 is associated with mutations in the PSMB9 gene on chromosome 6.

Genetic testing for PSMB9 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 22 always present features, 16 common features.

No clinical trials have been registered for proteasome-associated autoinflammatory syndrome 6.

4 publications have been identified in PubMed for proteasome-associated autoinflammatory syndrome 6. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Singh S (2026). [PMID: 41466885](https://pubmed.ncbi.nlm.nih.gov/41466885/). *J Transl Autoimmun*. [Review / Meta-Analysis]

• Wijngaard R (2026). [PMID: 42167218](https://pubmed.ncbi.nlm.nih.gov/42167218/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Kanegane H (2025). [PMID: 40498270](https://pubmed.ncbi.nlm.nih.gov/40498270/). *Int J Hematol*. [Review / Meta-Analysis]

• Guo W (2024). [PMID: 38881047](https://pubmed.ncbi.nlm.nih.gov/38881047/). *Pediatr Dermatol*. [Case Report / Case Series]