Сімейний холодовий аутозапальний синдром, повязаний з NLRC4
ORPHA:576349· ICD-10 D89.8· NLRC4-related familial cold autoinflammatory syndrome
Визначення(English summary)
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood, Infancy