KEGG DISEASE: 先天性若年発症型再発性呼吸器乳頭腫症

DISEASE: 先天性若年発症型再発性呼吸器乳頭腫症

エントリ

H02756

名称

先天性若年発症型再発性呼吸器乳頭腫症

概要

Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection of the upper airway by human papillomaviruses. The infection is thought to occur by vertical transmission at birth. It has been reported that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 gain-of-function mutation.

カテゴリ

新生物

階層分類

ICD-11 による疾患分類 [BR:jp08403]
02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   良性非間葉系腫瘍
    呼吸器または胸腔内器官の良性腫瘍
     2F00  中耳または呼吸器系の良性腫瘍
      H02756  先天性若年発症型再発性呼吸器乳頭腫症

病因遺伝子

NLRP1 [HSA:22861] [KO:K12798]

リンク

ICD-11:

2F00.1

OMIM:

618803

文献

PMID:31484767

著者

Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Beziat V, Abel L, Jouanguy E, Reversade B, Casanova JL

タイトル

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

雑誌

Proc Natl Acad Sci U S A 116:19055-19063 (2019)
DOI:10.1073/pnas.1906184116

LinkDB

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