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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