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Πέμπτη 18 Μαΐου 2017

A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient

Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency is a primary immunodeficiency, caused by biallelic loss-of-function mutations in the DOCK8 gene, often leading to severe viral infections, but do not usually have epidermodysplasia verruciformis (EV).1,2 Here we report a Chinese patient with unusual coexistence of gross generalized molluscum contagiosum (MC) and EV.

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