Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
Patient 3, a 32-yr-old Korean woman, had also showed neutropenia (ANC 329/µL). She had had severe recurrent oral ulcers until her early 20s. However, her stomatitis has no longer recurred after her marriage.\nConsidering the clinical courses and hereditary patterns of the two young girls and their mother, autosomal dominant congenital neutropenia was strongly suspected. Direct DNA sequencing analyses of the ELANE gene on chromosome 19p13.3 were performed on this family. The mutational analyses demonstrated substitution of the 597th base (G to A) in intron 4 (c.597+1G>A) on patients 1, 2, and 3, with negative study on their father and their eldest daughter ().\nDespite administration of vancomycin for 7 days to patient 1, enlarged lymph nodes and inflammatory changes around lymph nodes did not improve. From the 17th hospital day, we started administration of subcutaneous 5-10 µg/kg/day granulocyte colony stimulating factor (G-CSF). Although we gradually increased the dose of G-CSF up to 25 µg/kg/day, her lesion remained unchanged until excision under general anesthesia. After her discharge, she needed hospitalization twice more for 5 months due to stomatitis and severe acute otitis media, respectively. Patient 2 had three episodes of stomatitis with fever for 5 months. Despite administration of G-CSF 5-10 µg/kg, her ANC was also lower than 500/µL. Her mother has had no fever and oral ulcer since then.