Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene

被引:13
作者
Cho, Hye-Kyung [1 ]
Jeon, In Sang [1 ]
机构
[1] Gachon Univ, Dept Pediat, Grad Sch Med, Inchon 405706, South Korea
关键词
Severe Congenital Neutropenia; Neutrophil Elastase; Infection; ELASTASE;
D O I
10.3346/jkms.2014.29.3.452
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:452 / 455
页数:4
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