KEGG   DISEASE: Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
エントリ  
H00721                                                             
名称    
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
概要    
Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes.
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
  原発性免疫不全症
   4A00  自然免疫の疾患よる原発性免疫不全症
    H00721  Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
パスウェイ 
hsa04620 Toll-like receptor signaling pathway   
hsa04010 MAPK signaling pathway   
病因遺伝子 
MYD88 [HSA:4615] [KO:K04729]
リンク   
ICD-11: 4A00.2
MeSH: C567379
OMIM: 612260
文献    
PMID:18669862
  著者
von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Arostegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yague J, Anton J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Marodi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL
  タイトル
Pyogenic bacterial infections in humans with MyD88 deficiency.
  雑誌
Science 321:691-6 (2008)
DOI:10.1126/science.1158298
文献    
PMID:21734245
  著者
Picard C, Casanova JL, Puel A
  タイトル
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency.
  雑誌
Clin Microbiol Rev 24:490-7 (2011)
DOI:10.1128/CMR.00001-11
文献    
PMID:20236864
  著者
Bousfiha A, Picard C, Boisson-Dupuis S, Zhang SY, Bustamante J, Puel A, Jouanguy E, Ailal F, El-Baghdadi J, Abel L, Casanova JL
  タイトル
Primary immunodeficiencies of protective immunity to primary infections.
  雑誌
Clin Immunol 135:204-9 (2010)
DOI:10.1016/j.clim.2010.02.001
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