Genotype-phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant.

Abstract excerpt

INTRODUCTION: Specific granule deficiency (SGD)-a rare innate immune disorder-is classified into types 1 and 2 (SGD-1 and -2). SGD-1 is caused by variants of the CCAAT/enhancer-binding protein epsilon (C/EBPε) gene. METHODS: We assessed the molecular mechanisms underlying C/EBPε dysfunction in SGD-1, caused by the frameshift variant (c.655_665del; del11) that we previously reported. We compared the functions of...

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