Аутосомно-рецесивний синдром гіпер-IgE, зумовлений дефіцитом ZNF341
ORPHA:641368· ICD-10 D82.4· Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Визначення(English summary)
A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy