Table 1 Comparison of PRAAS, patients 1, patient 2, and Psmb9G156D/+ mice.
PRAAS | Patient 1 | Patient 2 | Psmb9G156D/+ mice | ||
|---|---|---|---|---|---|
Clinical findings | Fever | + | + | + | − |
Skin rash | + | + | + | − | |
Myositis | + | + | + | NA | |
Liver dysfunction | + | + (fibrosis) | + | NA | |
Pneumonia | + | + | + | NA | |
Splenomegaly | + | + | + | − | |
Lipoatrophy | + | − | − | − | |
Pulmonary hypertension | Rare | + | + | NA | |
Basal ganglia calcification | + | + | + | NA | |
IFN score | Positive | − | Positive | − | |
Viremia | − | Polyoma virus + | Polyoma virus + | NA | |
Blood analysis | Neutrophil | Variable | ↑ | → | ↑ |
Monocyte | Variable | ↑ | ↓ | ↑ | |
NK cell | Variable | → | ↓ | → | |
Dendritic cell | NA | NA | NA | ↓ | |
T cell | Variable | →(CD4) ↑ (CD8) ↓ (γδ) | ↓(CD8) ↓ (γδ) | ↓ | |
B cell | Variable | ↓ | → | ↓ | |
Serum Ig | ↑ | ↓(IgG) | Unevaluable | ↓ | |
Proteasome analysis | β1i maturation | Variable | Defect | Defect | Defect |
Proteasome activity | 20S, 26S defect | 20S defect | 20S defect | 20S defect | |
Ubiquitin accumulation | ++ | +/− | +/− | − |
