PLCG2-асоційований дефіцит антитіл та імунна дисрегуляція
ORPHA:300359· ICD-10 L50.2· PLCG2-associated antibody deficiency and immune dysregulation
Визначення(English summary)
A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal