Аутосомно-рецессивная тяжелая врожденная нейтропения вследствие дефицита CXCR2
Определение
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.