Протеасома-асоційований аутозапальний синдром
ORPHA:324977· ICD-10 D89.8· Proteasome-associated autoinflammatory syndrome
Визначення(English summary)
A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal