Professor Tadayuki Akag
Fukuoka Institute of Technology
Title: Genetic Mutations in the Transcription Factor C/EBPε and Immunodeficiency Disorders
Abstract
White blood cells consist of lymphocytes, macrophages, and granulocytes, among others. Among granulocytes, there are eosinophils, basophils, and neutrophils, with neutrophils playing a vital role in the body's defense by phagocytizing foreign substances and undergoing intracellular digestion. The transcription factor C/EBPε is an essential factor for neutrophil differentiation. In C/EBPε gene knockout (KO) mice, neutrophil differentiation is inhibited, leading to susceptibility to infections. In humans, mutations in the C/EBPε gene result in an inhibition of neutrophil differentiation, causing specific secondary granule deficiency (SGD), a globally recognized rare disorder.
This presentation introduces insights derived from studies in C/EBP KO mice and functional analysis of mutant C/EBPε observed in SGD patients. Particularly, we approach this disorder from a molecular biology perspective, discussing its implications and outlining prospects.
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