KEGG   DISEASE: 疣贅状表皮発育異常症
エントリ  
H00842                                                             
名称    
疣贅状表皮発育異常症
概要    
Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous carcinomas.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 01 感染症・寄生虫症
  皮膚または粘膜の病変で特徴づけられるウイルス感染症
   皮膚または粘膜のヒトパピローマウイルス感染症
    1E83  免疫不全状態でのいぼウイルス増殖
     H00842  疣贅状表皮発育異常症
病因遺伝子 
(EV1) TMC6 [HSA:11322] [KO:K21988]
(EV2) TMC8 [HSA:147138] [KO:K21988]
(EV3) CIB1 [HSA:10519] [KO:K17259]
(EV4) RHOH [HSA:399] [KO:K07873]
(EV5) IL7 [HSA:3574] [KO:K05431]
リンク   
ICD-11: 1E83
MeSH: D004819
OMIM: 226400 618231 618267 618307 618309
文献    
  著者
Gul U, Kilic A, Gonul M, Cakmak SK, Bayis SS
  タイトル
Clinical aspects of epidermodysplasia verruciformis and review of the literature.
  雑誌
Int J Dermatol 46:1069-72 (2007)
DOI:10.1111/j.1365-4632.2006.03014.x
文献    
  著者
Gewirtzman A, Bartlett B, Tyring S
  タイトル
Epidermodysplasia verruciformis and human papilloma virus.
  雑誌
Curr Opin Infect Dis 21:141-6 (2008)
DOI:10.1097/QCO.0b013e3282f486c9
文献    
PMID:30068544 (CIB1 TMC6 TMC8)
  著者
de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL
  タイトル
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses.
  雑誌
J Exp Med 215:2289-2310 (2018)
DOI:10.1084/jem.20170308
文献    
PMID:22850876 (RHOH)
  著者
Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E
  タイトル
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
  雑誌
J Clin Invest 122:3239-47 (2012)
DOI:10.1172/JCI62949
文献    
PMID:25981006 (IL7)
  著者
Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A
  タイトル
Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency.
  雑誌
J Am Acad Dermatol 72:1082-4 (2015)
DOI:10.1016/j.jaad.2015.02.1118
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