A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia

被引：0
|
作者：
Seung-Tae Lee
Hoi-Soo Yoon
Hee-Jin Kim
Jae-Hee Lee
Jun-Hee Park
Sun-Hee Kim
Jong-Jin Seo
Ho Joon Im
机构：
[1] Sungkyunkwan University School of Medicine,Department of Laboratory Medicine and Genetics, Samsung Medical Center
[2] Samsung Medical Center,Samsung Biomedical Research Institute
[3] University of Ulsan College of Medicine,Department of Pediatrics, Asan Medical Center
来源：
Annals of Hematology | 2009年 / 88卷
关键词：
Hematopoietic Stem Cell Transplantation; Absolute Neutrophil Count; Neutrophil Elastase; Human Neutrophil Elastase; Maturation Arrest;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：593 / 595
页数：2
相关论文
共 50 条
  • [31] A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia
    Aytekin, Caner
    Germeshausen, Manuela
    Tuygun, Nilden
    Dogu, Figen
    Ikinciogullari, Aydan
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2013, 35 (02) : E81 - E83
  • [32] Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1
    Skokowa, Julia
    Fobiwe, John Paul
    Dan, Lan
    Thakur, Basant Kumar
    Welte, Karl
    BLOOD, 2009, 114 (14) : 3044 - 3051
  • [33] Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review
    Jia, Yue
    Yue, Changjun
    Bradford, Kathryn
    Qing, Xin
    Panosyan, Eduard H.
    Gotesman, Moran
    JOURNAL OF PEDIATRIC GENETICS, 2020, 09 (03) : 203 - 206
  • [34] Novel Mutation of IL2RG Gene in a Korean Boy With X-linked Severe Combined Immunodeficiency
    Lee, Y. W.
    Yang, E. A.
    Kang, H. J.
    Yang, X.
    Mitsuiki, N.
    Ohara, O.
    Miyawaki, T.
    Kanegane, H.
    Lee, J. H.
    JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2013, 23 (01) : 65 - 67
  • [35] A 17q25.3 duplication defines a new dosage-sensitive congenital neutropenia locus and implicates SOCS3 as a candidate gene for cases unexplained by ELA2 mutation.
    Mealiffe, Matthew E.
    Le, Doan
    Doan, Zhijun
    Papadaki, Helen
    Eliopoulos, George
    Badolato, Raffaele
    Horwitz, Marshall S.
    BLOOD, 2006, 108 (11) : 375A - 375A
  • [36] A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations
    Muhammad Faiyaz-Ul-Haque
    Abdullah Al-Jefri
    Fouad Al-Dayel
    Jalaluddin A. K. M. Bhuiyan
    Hala A. Abalkhail
    Randa Al-Nounou
    Ahmed Al-Abdullatif
    Monogaran S. Pulicat
    Ameera Gaafar
    Ayodele A. Alaiya
    Iskra Peltekova
    Syed H. E. Zaidi
    European Journal of Pediatrics, 2010, 169 : 661 - 666
  • [37] A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations
    Faiyaz-Ul-Haque, Muhammad
    Al-Jefri, Abdullah
    Al-Dayel, Fouad
    Bhuiyan, Jalaluddin A. K. M.
    Abalkhail, Hala A.
    Al-Nounou, Randa
    Al-Abdullatif, Ahmed
    Pulicat, Monogaran S.
    Gaafar, Ameera
    Alaiya, Ayodele A.
    Peltekova, Iskra
    Zaidi, Syed H. E.
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (06) : 661 - 666
  • [38] A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)
    Faiyaz-Ul-Haquea, M.
    Al-Jefric, A.
    Abalkhail, H. A.
    Toulimat, M.
    Al-Muallimi, M. A.
    Pulicat, M. S.
    Gaafar, A.
    Alaiya, A. A.
    Al-Dayel, F.
    Peltekova, I.
    Zaidi, S. H. E.
    CLINICAL GENETICS, 2009, 76 (06) : 569 - 572
  • [39] Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy
    Liu, Peng-Peng
    Ding, Hu-Qing
    Huang, Shen-Zhen
    Yang, Sheng-Yong
    Liu, Ting
    CHINESE MEDICAL JOURNAL, 2019, 132 (01) : 92 - 95
  • [40] Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy
    LiuPeng-Peng
    DingHu-Qing
    HuangShen-Zhen
    YangSheng-Yong
    LiuTing
    中华医学杂志英文版, 2019, 132 (01) : 92 - 95
12345