Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
Patient 2, a 37-month-old Korean girl, had a medical history of recurrent oral ulcers and persistent neutropenia (< 200/µL) and several times of hospitalization for treatment of cervical lymphadenitis, pneumonia and oral ulcers with fever. She underwent bone marrow aspiration and biopsy three days before her sister's admission (patient 1). Her ANC was also low (162/µL) on the day of the bone marrow examination, and serum immunoglobulin G, A, and M levels were normal, and chromosome analysis showed normal female karyotype (46, XX). Her bone marrow finding showed myeloid hypoplasia with maturation arrest at the promyelocyte stage ().