WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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- 1. ウィスコット・オルドリック症候群 wiskott aldrich syndrome
- 2. 小児における血小板減少症の原因 causes of thrombocytopenia in children
- 3. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
- 4. 新生児血小板減少症 neonatal thrombocytopenia
- 5. 血小板減少症を有する成人患者に対するアプローチ approach to the adult patient with thrombocytopenia
English Journal
- Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
- Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A.AbstractHigh-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but compared with X-linked and autosomal dominant diseases, the search for genetic defects underlying autosomal recessive diseases still lags behind. In a large consanguineous family with autosomal recessive intellectual disability (ARID), we have combined homozygosity mapping, targeted exon enrichment and high-throughput sequencing to identify the underlying gene defect. After appropriate single-nucleotide polymorphism filtering, only two molecular changes remained, including a non-synonymous sequence change in the SWIP [Strumpellin and WASH (Wiskott-Aldrich syndrome protein and scar homolog)-interacting protein] gene, a member of the recently discovered WASH complex, which is involved in actin polymerization and multiple endosomal transport processes. Based on high pathogenicity and evolutionary conservation scores as well as functional considerations, this gene defect was considered as causative for ID in this family. In line with this assumption, we could show that this mutation leads to significantly reduced SWIP levels and to destabilization of the entire WASH complex. Thus, our findings suggest that SWIP is a novel gene for ARID.
- Human molecular genetics.Hum Mol Genet.2011 Jul 1;20(13):2585-90. Epub 2011 Apr 15.
- High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but compared with X-linked and autosomal dominant diseases, the search for genetic defects underlying autosomal recessive diseases still lags behind. In a large consanguineous family with autosomal recessive int
- PMID 21498477
- The Host Phosphoinositide 5-Phosphatase SHIP2 Regulates Dissemination of Vaccinia Virus.
- McNulty S, Powell K, Erneux C, Kalman D.SourcePathology Department, Emory University, Whitehead Biomedical Building, Rm. 144, 615 Michael St., Atlanta, GA 30322. dkalman@emory.edu.
- Journal of virology.J Virol.2011 Jul;85(14):7402-10. Epub 2011 May 4.
- After fusing with the plasma membrane, enveloped poxvirus virions form actin-filled membranous protrusions, called tails, beneath themselves and move toward adjacent uninfected cells. While much is known about the host and viral proteins that mediate formation of actin tails, much less is known abou
- PMID 21543482
Japanese Journal
- Long-term observation of herpes simplex virus type 1 (HSV-1) infection in a child with Wiskott-Aldrich Syndrome and a possible reactivation mechanism for thymidine kinase-negative HSV-1 in humans
- Shiota Tomoyuki,Kurane Ichiro,Morikawa Shigeru [他]
- Japanese Journal of Infectious Diseases 64(2), 121-126, 2011-03
- NAID 40018775769
- A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome
- YU Hongtao,LIU Ting,MENG Wentong,HOU Li
- International journal of hematology 92(2), 271-275, 2010-09-15
- NAID 10026712167
Related Links
- Wiskott?Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called ...
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★リンクテーブル★
| リンク元 | 「ウィスコット・アルドリッチ症候群」 |
| 拡張検索 | 「Wiskott-Aldrich syndrome protein family」「neuronal Wiskott-Aldrich syndrome protein」「Wiskott-Aldrich syndrome protein」「Wiskott-Aldrich syndrome」 |
| 関連記事 | 「syndrome」 |
「ウィスコット・アルドリッチ症候群」
- 英
- Wiskott-Aldrich syndrome, WAS
- 同
- ウィスコット・オールドリッチ症候群, ウィスコット・アルドリック症候群, ウィスコット・アルドリッヒ症候群, Wiskott-Aldrich症候群
- アルドリッチ症候群 オールドリッチ症候群、オールドリッチ症候群、オルドリック症候群、Aldrich症候群、Aldrich syndrome
- 関
- 血小板減少、免疫不全症候群、原発性免疫不全症候群
概念
- 血小板減少と湿疹を伴う免疫不全症
- B細胞-活性化↓
- 男児のみ
- 免疫不全症、血小板減少、湿疹
遺伝
- X連鎖劣性遺伝
病因
- Xp11.22：WASP遺伝子 (WCH.49によれば、Xp 11-23)の異常による。
- CD43の発現異常とされる
病態
- 細胞骨格となるアクチンの再構築に関与している。この機能が損なわれることで免疫シナプスの形成に打撃を与える。
症状
- ３大徴候
- 1) recurrent infefction 免疫不全 細胞性免疫、IgE高値
- 2) thrombocytepenia 出血性素因 血小板減少による、血便。進行性。
- 3) dermatitis アトピー性皮膚炎 難治性湿疹
- 4) 自己免疫疾患：40-70%の患者で報告がある (参考1)
- 5) 悪性腫瘍：小児でも起こりうるが、思春期と若年男性に好発 (参考1)
免疫不全
- Triad of symptoms includes recurrent pyogenic Infections, thrombocytopenic Purpura, Eczema (WIPE)
- 反復感染
- capsular polysaccharides of bacteriaに対するIgMの反応が起こせなくなる
- 緑膿菌、黄色ブドウ球菌、ヘルペスウイルス属、カンジダ属
皮膚症状=
- 湿疹
- 生後6ヶ月までに湿疹と紫斑が出現。
- 湿疹はアトピー性様
合併症=
- 悪性リンパ腫
検査
- 参考1
- 免疫系
- T細胞数の減少と機能低下。Treg細胞の機能低下 B細胞も伴うらしい。
- 免疫グロブリン：(減少～正常)IgG, IgM, (増加) IgA, IgE
- 特定のワクチン抗原に対する反応の欠如
- NK細胞数は正常～増加、細胞殺傷能力低下
- 食細胞(好中球など)の遊走能低下。
- リンパ球数：幼小児時は正常、成長につれて減少。
治療
- 造血幹細胞移植(骨髄移植)
予後
- 成人になる前に死亡する。
参考
- 1. [charged] Wiskott-Aldrich syndrome - uptodate [1]
国試
「Wiskott-Aldrich syndrome protein family」
「neuronal Wiskott-Aldrich syndrome protein」
神経性ウィスコット・アルドリッチ症候群タンパク質、神経性Wiskott-Aldrich症候群タンパク質
「Wiskott-Aldrich syndrome protein」
[★] ウィスコット・オールドリッチ症候群タンパク質 WASP
「Wiskott-Aldrich syndrome」
「syndrome」
- n.