KEGG   DISEASE: CHAPLE 症候群
エントリ  
H02904                                                             
名称    
CHAPLE 症候群
概要    
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia. It has been reported that mutations in CD55 cause this syndrome. CD55 encodes the decay-accelerating factor (DAF), a widely expressed glycosylphosphatidylinositol-linked membrane protein. DAF regulates complement activation by inhibiting C3 and C5 cleavage and activation, thus protecting cells against complement-induced self-injury.
カテゴリ  
原発性免疫不全症
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
    H02904  CHAPLE 症候群
病因遺伝子 
CD55 [HSA:1604] [KO:K04006]
リンク   
ICD-11: 4A00.1Y
MeSH: D011504
OMIM: 226300
文献    
  著者
Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN
  タイトル
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
  雑誌
N Engl J Med 377:87-89 (2017)
DOI:10.1056/NEJMc1707173
文献    
  著者
Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ
  タイトル
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
  雑誌
N Engl J Med 377:52-61 (2017)
DOI:10.1056/NEJMoa1615887
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