Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia.
10.3346/jkms.2011.26.12.1646
- Author:
Ye Jee SHIM
1
;
Hee Jin KIM
;
Jang Soo SUH
;
Kun Soo LEE
Author Information
1. Department of Pediatrics, Kyungpook National University Medical Center, Kyungpook National University School of Medicine, Daegu, Korea.
- Publication Type:Case Reports
- Keywords:
Severe Congenital Neutropenia;
Neutrophil Elastase
- MeSH:
Bacterial Infections;
Base Sequence;
Female;
Granulocyte Colony-Stimulating Factor/administration & dosage/therapeutic use;
Humans;
Infant;
Leukocyte Count;
Leukocyte Elastase/*genetics;
Lymphadenitis;
Neutropenia/blood/*congenital/genetics;
Neutrophils;
Point Mutation;
Republic of Korea;
Sequence Analysis, DNA
- From:Journal of Korean Medical Science
2011;26(12):1646-1649
- CountryRepublic of Korea
- Language:English
-
Abstract:
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropenia at birth. The peripheral blood showed a markedly decreased absolute neutrophil count, and the bone marrow findings revealed maturation arrest of myeloid precursors at the promyelocyte to myelocyte stage. Her direct DNA sequencing analysis demonstrated an ELANE gene mutation (c.607G > C; p.Gly203Arg), but her parents were negative for it. She showed only transient response after subcutaneous 15 microg/kg/day of granulocyte colony stimulating factor administration for six consecutive days. During the follow-up observation period, she suffered from subsequent seven febrile illnesses including urinary tract infection, septicemia, and cellulitis.
