Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene.
10.3346/jkms.2014.29.3.452
- Author:
Hye Kyung CHO
1
;
In Sang JEON
Author Information
1. Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea. isjeon@gilhospital.com
- Publication Type:Case Reports
- Keywords:
Severe Congenital Neutropenia;
Neutrophil Elastase;
Infection
- MeSH:
Adult;
Child, Preschool;
DNA Mutational Analysis;
Female;
Granulocyte Colony-Stimulating Factor/therapeutic use;
Humans;
Infant;
Leukocyte Elastase/*genetics;
Methicillin-Resistant Staphylococcus aureus/isolation & purification;
Mutation/genetics;
Neutropenia/*congenital/diagnosis/drug therapy/genetics;
Pedigree;
*Phenotype;
Polymorphism, Single Nucleotide;
Recurrence;
Staphylococcal Infections/diagnosis/microbiology;
Stomatitis/diagnosis;
Tomography, X-Ray Computed
- From:Journal of Korean Medical Science
2014;29(3):452-455
- CountryRepublic of Korea
- Language:English
-
Abstract:
Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. Her sister, a 37-month-old girl (patient 2), had recurrent stomatitis with profound neutropenia, and her mother, a 32-yr-old woman (patient 3), had had recurrent stomatitis until her early 20s with neutropenia. We found an ELANE gene mutation (c.597+1G > A) from them in direct DNA sequencing analysis. Patients 1 and 2 did not respond to granulocyte colony stimulating factor and patient 1 was treated with prolonged antibiotics and excision. We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.
