Аутосомно-рецессивный первичный иммунодефицит с дефектами спонтанной цитотоксичности естественных киллеров
Определение
A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Ebstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.