KEGG   DISEASE: HOIL-1 欠損症
エントリ  
H01744                                                             

名称    
HOIL-1 欠損症;
RBCK1 欠損症
概要    
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.
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
   H01744  HOIL-1 欠損症
ICD-11 による疾患分類 [BR:jp08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H01744  HOIL-1 欠損症
病因遺伝子 
RBCK1 [HSA:10616] [KO:K10630]
リンク   
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 615895
文献    
  著者
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israel L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debre M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israel A, Casanova JL, Picard C
  タイトル
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
  雑誌
Nat Immunol 13:1178-86 (2012)
DOI:10.1038/ni.2457
文献    
  著者
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Davila Lopez M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A
  タイトル
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
  雑誌
Ann Neurol 74:914-9 (2013)
DOI:10.1002/ana.23963
文献    
  著者
Ombrello MJ, Kastner DL, Milner JD
  タイトル
HOIL and water: the two faces of HOIL-1 deficiency.
  雑誌
Nat Immunol 13:1133-5 (2012)
DOI:10.1038/ni.2471
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