KEGG   DISEASE: 自己炎症合併フォスフォリパーゼCγ2 関連抗体欠損・免疫異常症
エントリ  
H01743                                                             

名称    
自己炎症合併フォスフォリパーゼCγ2 関連抗体欠損・免疫異常症
概要    
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease caracterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.
カテゴリ  
免疫系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  その他の免疫系疾患
   H01743  自己炎症合併フォスフォリパーゼCγ2 関連抗体欠損・免疫異常症
ICD-11 による疾患分類 [BR:jp08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H01743  自己炎症合併フォスフォリパーゼCγ2 関連抗体欠損・免疫異常症
パスウェイ 
hsa04064  NF-kappa B シグナル伝達経路
病因遺伝子 
PLCG2 [HSA:5336] [KO:K05859]
リンク   
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 614878
文献    
  著者
Almeida de Jesus A, Goldbach-Mansky R
  タイトル
Monogenic autoinflammatory diseases: concept and clinical manifestations.
  雑誌
Clin Immunol 147:155-74 (2013)
DOI:10.1016/j.clim.2013.03.016
文献    
  著者
Milner JD
  タイトル
PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.
  雑誌
J Clin Immunol 35:527-30 (2015)
DOI:10.1007/s10875-015-0177-x
文献    
  著者
Milner JD, Holland SM
  タイトル
The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.
  雑誌
Nat Rev Immunol 13:635-48 (2013)
DOI:10.1038/nri3493
文献    
  著者
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I
  タイトル
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
  雑誌
Am J Hum Genet 91:713-20 (2012)
DOI:10.1016/j.ajhg.2012.08.006
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