KEGG   DISEASE: MHCクラスII欠損症
エントリ  
H00985                                                             
名称    
MHCクラスII欠損症
  下位グループ
露出リンパ球症候群 2型
  上位グループ
複合免疫不全症 [DS:H00093]
獲得免疫の障害 [DS:H02526]
原発性免疫不全症 [DS:H01725]
概要    
Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as type I, type II, and type III based on defective surface MHC expression. A feature of loss in constitutive and inducible MHC II proteins have been grouped as BLS type II. BLS type III is recognized by the loss of both MHC I and MHC II molecules.
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
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H00985  MHCクラスII欠損症
パスウェイ 
hsa04612  Antigen processing and presentation
病因遺伝子 
(MHC2D1) CIITA [HSA:4261] [KO:K08060]
(MHC2D2) RFXANK [HSA:8625] [KO:K08062]
(MHC2D3/5) RFX5 [HSA:5993] [KO:K08061]
(MHC2D4) RFXAP [HSA:5994] [KO:K08063]
リンク   
ICD-11: 4A01.12
MeSH: C565910
OMIM: 209920 620815 620816 620817 620818
文献    
  著者
Shrestha D, Szollosi J, Jenei A
  タイトル
Bare lymphocyte syndrome: an opportunity to discover our immune system.
  雑誌
Immunol Lett 141:147-57 (2012)
DOI:10.1016/j.imlet.2011.10.007
文献    
PMID:11862382 (MHC2D1)
  著者
Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B
  タイトル
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
  雑誌
Immunogenetics 53:821-9 (2002)
DOI:10.1007/s00251-001-0395-7
文献    
PMID:10725724 (MHC2D2)
  著者
Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ
  タイトル
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
  雑誌
J Immunol 164:3666-74 (2000)
DOI:10.4049/jimmunol.164.7.3666
文献    
PMID:10079298 (MHC2D3)
  著者
Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ
  タイトル
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
  雑誌
Immunogenetics 49:338-45 (1999)
DOI:10.1007/s002510050501
文献    
PMID:9118943 (MHC2D4)
  著者
Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W
  タイトル
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
  雑誌
EMBO J 16:1045-55 (1997)
DOI:10.1093/emboj/16.5.1045
文献    
PMID:12368908 (MHC2D5)
  著者
Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM
  タイトル
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.
  雑誌
Nat Immunol 3:1075-81 (2002)
DOI:10.1038/ni840
LinkDB    

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