KEGG   DISEASE: 遺伝性好中球増加症
エントリ  
H02948                                                             
名称    
遺伝性好中球増加症
概要    
Hereditary neutrophilia is a rare genetic immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow, and splenomegaly. It has been reported that an activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. CSF3R encodes the granulocyte colony-stimulating factor (G-CSF) receptor which is involved in the differentiation and proliferation of granulocytes.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  白血球系統の免疫系疾患
   4B00  好中球数の疾患
    H02948  遺伝性好中球増加症
病因遺伝子 
CSF3R [HSA:1441] [KO:K05061]
リンク   
ICD-11: 4B00.1
MeSH: C563010
OMIM: 162830
文献    
  著者
Plo I, Zhang Y, Le Couedic JP, Nakatake M, Boulet JM, Itaya M, Smith SO, Debili N, Constantinescu SN, Vainchenker W, Louache F, de Botton S
  タイトル
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia.
  雑誌
J Exp Med 206:1701-7 (2009)
DOI:10.1084/jem.20090693
文献    
  著者
Hong WJ, Gotlib J
  タイトル
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
  雑誌
Best Pract Res Clin Haematol 27:95-106 (2014)
DOI:10.1016/j.beha.2014.07.002
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