KEGG   DISEASE: エピソード性発熱と免疫調節不全を伴う自己炎症
エントリ  
H02826                                                             
名称    
エピソード性発熱と免疫調節不全を伴う自己炎症
概要    
Autoinflammation with episodic fever and immune dysregulation (AIFID) is a novel autoinflammatory disorder characterized by recurrent fever, parotitis, joint inflammation, colitis, and chronicotitis media. It has been reported that mutations in SHARPIN cause this disorder. SHARPIN is a component of the linear ubiquitin assembly complex (LUBAC), that mediates the conjugation of linear ubiquitin chains to various target molecules of the NF-kappaB pathway and other signaling complexes.
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
  自己炎症性疾患
   4A6Y  その他の明示された自己炎症性疾患
    H02826  エピソード性発熱と免疫調節不全を伴う自己炎症
病因遺伝子 
SHARPIN [HSA:81858] [KO:K20894]
リンク   
ICD-11: 4A6Y
OMIM: 620795
文献    
  著者
Oda H, Manthiram K, Chavan PP, Rieser E, Veli O, Kaya O, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Celik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthiasardottir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL
  タイトル
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
  雑誌
Nat Immunol 25:764-777 (2024)
DOI:10.1038/s41590-024-01817-w
文献    
  著者
Seymour RE, Hasham MG, Cox GA, Shultz LD, Hogenesch H, Roopenian DC, Sundberg JP
  タイトル
Spontaneous mutations in the mouse Sharpin gene result in multiorgan inflammation, immune system dysregulation and dermatitis.
  雑誌
Genes Immun 8:416-21 (2007)
DOI:10.1038/sj.gene.6364403
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