Article
Identification of a novel IRF8 homozygous mutation causing neutrophilia, monocytopenia and fatal infection in a female neonate.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases - 1 Dec 2021
Dang Dan, Liu Ying, Zhou Qi, Li Heng, Wang Ying, Wu Hui
Abstract excerpt
Inborn errors of immunity (IEIs) result from mutations in genes involved in host immune defense and immune regulation. Herein, we report the identification of a novel IRF8 mutation in a neonate with an IEI. DNA samples from both the neonate and her parents were subjected to DNA sequencing, and the immune status of the patient was assessed. We identified a mutation (c.331C > T, p. Arg111*) in the interferon...
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