Генетические предикторы неблагоприятного течения тяжелой врожденной нейтропении у пациентов с мутацией в гене ELANE

Тяжелая врожденная нейтропения (ТВН) является редким генетически обусловленным заболеванием с обрывом созревания гранулоцитов в костном мозге и, как следствие, высоким риском развития угрожающих жизни инфекций. У большей части пациентов (60-80%) заболевание вызвано мутацией в гене ELANE. В подтверждение ранее опубликованных данных Международного регистра ТВН (Severe Congenital Neutropenia International Registry) мы показали ассоциацию конкретных мутаций в гене ELANE (в позициях C151 и G214) с особо тяжелым течением заболевания, что проявляется резистентностью к терапии гранулоцитарным колониестимулирующим фактором и развитием миелодис-пластического синдрома.

дети, врожденная нейтропения, циклическая нейтропения, мутация в гене ELANE, тяжесть течения, гранулоцитарный колониестимулирующий фактор, острый миелоидный лейкоз, миелодиспластический синдром, children, congenital neutropenia, cyclic neutropenia, ELANE gene mutation, severe course, granulocyte colony-stimulating factor, acute myeloid leukemia, myelodysplastic syndrome

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