SAMD9L-associated autoinflammatory syndrome
ORPHA:619367· ICD-10 D89.8
Definition
A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Neonatal