Ana Maria Forsea

Recurrent severe pyogenic infections revealing neutrophil-specific granule deficiency caused by a novel CEBPEsplice-region variant: a case report

Neutrophil-specific granule deficiency is an exceptionally rare autosomal recessive primary immunodeficiency caused by pathogenic variants in the CCAAT/enhancer-binding protein epsilon (CEBPE) gene. Defective neutrophil maturation results in impaired bactericidal activity and recurrent pyogenic infections, predominantl...