Редкий ОВИН – подобный фенотип при аутоиммунном лимфопролиферативном синдроме

Аутоиммунный лимфопролиферативный синдром (АЛПС) - первичный иммунодефицит (ПИД), вызванный нарушением FAS-опосредованного апоптоза, обычно сопровождающийся гипергаммаглобулинемией. Тем не менее, в данной когорте пациентов случаются исключения, затрудняющие своевременную диагностику, в частности, может наблюдаться симптоматика, напоминающая общую вариабельную иммунную недостаточность (ОВИН). В данной статье мы описываем редкий случай агаммаглобулинемии у пациентки с генетически подтвержденным аутоимммунным лимфопролиферативным синдромом.

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