severe combined immunodeficiency

出典: meddic

重症複合型免疫不全症 SCID

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/02/13 01:15:11」(JST)

wiki en

[Wiki en表示]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.


  • Human blood outgrowth endothelial cells improve islet survival and function when co-transplanted in a mouse model of diabetes.
  • Coppens V, Heremans Y, Leuckx G, Suenens K, Jacobs-Tulleneers-Thevissen D, Verdonck K, Lahoutte T, Luttun A, Heimberg H, De Leu N.SourceDiabetes Research Center, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium.
  • Diabetologia.Diabetologia.2013 Feb;56(2):382-90. doi: 10.1007/s00125-012-2754-3. Epub 2012 Oct 23.
  • AIMS/HYPOTHESIS: As current islet-transplantation protocols suffer from significant graft loss and dysfunction, strategies to sustain the long-term benefits of this therapy are required. Rapid and adequate oxygen and nutrient delivery by blood vessels improves islet engraftment and function. The pre
  • PMID 23090187
  • Intrathymic progenitor cell transplantation across histocompatibility barriers results in the persistence of early thymic progenitors and T cell differentiation.
  • de Barros SC, Vicente R, Chebli K, Jacquet C, Zimmermann VS, Taylor N.SourceInstitut de Genetique Moleculaire de Montpellier, CNRS UMR 5535/IFR 122, Montpellier, France.
  • Blood.Blood.2013 Jan 10. [Epub ahead of print]
  • Donor hematopoietic stem cells (HSCs) can correct T cell deficiencies in severe combined immunodeficiency patients by replacing resident thymus cells. However, as those progenitors that naturally migrate to the thymus are not capable of supporting long-term thymopoiesis, a successful transplant is
  • PMID 23305740
  • Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.
  • Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M.SourceBaylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.
  • Gene.Gene.2013 Jan 10;512(2):189-93. doi: 10.1016/j.gene.2012.10.062. Epub 2012 Nov 2.
  • Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa
  • PMID 23124046


  • Successful reduced-intensity SCT from unrelated cord blood in three patients with X-linked SCID
  • Iguchi Akihiro,Kawamura Nobuaki,Kobayashi Ryoji,Takezaki Shun-ichiro,Ohkura Yuka,Inamoto Jun,Ohshima Junjiro,Ichikawa Mizuho,Sato Tomonobu,Kaneda Makoto,Cho Yuko,Yamada Masafumi,Kobayashi Ichiro,Ariga Tadashi
  • Bone Marrow Transplantation 46(12), 1526-1531, 2011-12
  • … We described three boys with X-linked severe combined immunodeficiency (X-SCID) who were successfully treated by reduced-intensity stem cell transplantation from unrelated cord blood (CB). …
  • NAID 120004123464
  • RD遺伝子の特異的欠如の検出により播種性BCG感染症と診断した重症複合型免疫不全症の1例
  • 赤井畑 美津子,橋本 浩一,川崎 幸彦,細矢 光亮,森 修一,錫谷 達夫
  • 感染症学雑誌 : 日本伝染病学会機関誌 : the journal of the Japanese Association for Infectious Diseases 85(2), 176-179, 2011-03-20
  • NAID 10029687726


Severe Combined Immunodeficiency Definition Severe combined immunodeficiency (SCID) is the most serious human immunodeficiency disorder(s). It is a group of congenital disorders in which both the humoral part of the patient's ...
Severe combined immunodeficiency (SCID) is an immune deficiency that can be successfully treated if it's identified early. ... Caring for Your Child with SCID Babies who have had bone marrow transplants may need additional ...


severe combined immunodeficiency syndromeSevere Combined Immunodeficiency Disorder Severe Combined Immunodeficiency Severe Combined ImmunodeficiencySevere combined immunodeficiencyWhat is severe combined immunodeficiency?

リンク元免疫不全症候群」「重症複合型免疫不全症」「severe combined immunodeficient」「SCID
拡張検索X-linked severe combined immunodeficiency」「radiation-sensitive severe combined immunodeficiency」「severe combined immunodeficiency syndrome」「severe combined immunodeficiency disease



immunodeficiency syndrome, immunodeficiency
免疫不全症免疫不全 immune deficiencyimmunodeficiency disease immunodeficiency disorder ID


  • 重症複合免疫不全症 severe combined immunodeficiency SCID:重篤で主なものはX連鎖劣性遺伝。T細胞-でB細胞とNK細胞は病型ごとに欠損
  • 抗体欠乏を主徴とする免疫不全症:B細胞の内因性欠陥またはT-B細胞相互間の異常により,抗体産生が障害された疾患群で,最も頻度が高い(原発性免疫不全症の約45%)
  • その他
  • 1. Wiskott-Aldrich症候群 WAS:血小板減少、免疫低下、湿疹。X連鎖劣性遺伝。WASpをコードする遺伝子の変異による。T細胞における免疫シナプス形成不全が本態。IgG,IgMは正常~低下、IgE, IgAは増加。リンパ球数は漸減。
  • 2. DNA修復の欠陥
  • 毛細血管拡張性運動失調症 ataxia telangiectasia AT:毛細血管拡張、小脳失調症、。常染色体劣性遺伝。ATM蛋白は細胞周期制御、DNA調節に関与していると考えられ、遺伝子異常により(in vitroで?)放射線高感受性、細胞周期の異常、染色体脆弱性が認められる。T細胞減少、IgA,IgE減少。IgG2,IgG4も減少。
  • 3. 胸腺の欠損
  • 4. immuno-osseous dysplasia
  • 5. 高IgE症候群 HIES
  • 6. 皮膚粘膜カンジダ症
  • 7. 免疫不全を伴う肝静脈閉鎖症
  • 8. Hoyerall-Hreidarsson症候群
  • 免疫調節異常
  • 1. 白子症を伴う免疫不全
  • Chediak-Higashi症候群 CHS:好中球機能低下、NK細胞機能低下、白子症。常染色体劣性遺伝。細胞内輸送蛋白(CHS1)の調節の異常により巨大顆粒の形成、殺菌性蛋白・溶菌性酵素の食胞内放出が障害される。
  • 貪食細胞の数、機能、もしくは両方の異常
  • ADA欠損症
  • RAG-1/2欠損症:TCR,BCRの遺伝子再構成において、RSSの認識と切断に関わるリコンビナーゼを欠損
  • Artemis欠損症:TCR,BCRの遺伝子再構成において、RAGによる切断末端の修復に関わる酵素Artemisの欠損
  • LIG IV欠損症
  • TREC定量
  • CVID/IgA欠損症


  • 細菌性       → 抗体、補体、貪食細胞の欠損・障害
  • 真菌性、ウイルス性 → T細胞の欠損・障害


  • 1. 体液性免疫不全:B細胞欠損、Ig欠損・機能不全
Stapylococcus pneumonia, Stapylococcus pyrogens, Haemophilis influenzae
  • 2. 細胞性免疫不全:T細胞欠損・機能不全
1) 重症感染症
Psudomonas, Escherichia coli, Seratia
2) ウイルス感染
cytomegalovirus, helpes simplex virus, varicela zoaster virus
3) 真菌感染
Candida albicans, cryptococcus, aspergillus
4) 原虫
  • 3. 複合型免疫不全症(体液性免疫と細胞性免疫の両方の異常)
  • 4. 食細胞機能異常
細菌感染症による肺炎、皮膚炎、化膿性リンパ節炎 → 重症ではない


  • 1. 先天性免疫不全症候群 - MyMed



severe combined immunodeficiency SCID severe combined immune deficiency severe combined immunodeficiency disease
リンパ球減少性低γグロブリン血症 lymphopenic hypogammaglobulinemia
[show details]


  • T細胞の発生障害によるT細胞数の減少(CD4, CD8共に)と免疫グロブリン産生不全。
  • SCID(すきっど)
  • T細胞・B細胞の欠損・不全による免疫不全症の総称

SCIDに分類される疾患 (出典不明)

SCID (IMM.518)

Disease Gene defect Mechanism affected Phenotype
T cell B cell NK cell
XSCID IL-2 receptor γ chain(common gamma chain,) Cytokine signaling - + -
JAK3 - + -
IL-7 receptor - + +
RAG deficiency
Omenn syndrome
RAG1 Antigen receptor recombination - - +
RAG2 - - +
Artemis - - +
ADA deficiency ADA Metabolism - - -
  • autosomal SCID
  • DNA-PKの欠損
  • 電離放射線に感受性↑
  • B細胞↓、T細胞↓
  • Artemisの欠損

severe combined immunodeficient」


  • 重症複合免疫不全の
SCIDsevere combined immunodeficiency


  [★] 重症複合免疫不全症 severe combined immunodeficiency

X-linked severe combined immunodeficiency」

  [★] X連鎖重症複合免疫不全症 X-linked SCID

radiation-sensitive severe combined immunodeficiency」



severe combined immunodeficiency syndrome」

  [★] 重症複合型免疫不全症

severe combined immunodeficiency disease」

  [★] 重症複合型免疫不全症



  • adj.
  • 重篤な、重症の、重度の、激しい、苛酷な
  • 1.
  • 厳しい、厳格な。厳密な(⇔mild)。容赦しない、血も涙もない、痛烈な
  • ひどい、猛烈な。骨の折れる。過酷な
  • 2
  • 簡素な、地味な、渋い。厳粛な
critically illgraveheavilyintenselife-threateningrampantseriousseriouslysevere diseaseseverelystrenuous、severeness

WordNet   license wordnet

「very bad in degree or extent; "a severe worldwide depression"; "the house suffered severe damage"」

PrepTutorEJDIC   license prepejdic

「(人・法律などが)『厳しい』,厳格な / (態度・表情が)厳粛な,いかめしい / (病気などが)『重い』,危険な / (様式・趣味などが)簡素な,じみな,飾りのない / (人の体に)厳しくこたえる,激しい / (試験などが)難しい,厳しい」

WordNet   license wordnet

「unsparing and uncompromising in discipline or judgment; "a parent severe to the pitch of hostility"- H.G.Wells; "a hefty six-footer with a rather severe mien"; "a strict disciplinarian"; "a Spartan upbringing"」

WordNet   license wordnet

「intensely or extremely bad or unpleasant in degree or quality; "severe pain"; "a severe case of flu"; "a terrible cough"; "under wicked fire from the enemy''s guns"; "a wicked cough"」
terrible, wicked



  • v.
allyassociatebindbindingbondbondingcombinationcombined applicationcomplicateconcomitantconcurrentconjoinconjugateconjugationconjunctionconnectconnectioncoupledockengageengagementjoinligatelinkagemergemergersymphysialunion

WordNet   license wordnet

「join for a common purpose or in a common action; "These forces combined with others"」

WordNet   license wordnet

「harvester that heads and threshes and cleans grain while moving across the field」

PrepTutorEJDIC   license prepejdic

「…'を'『結合する』,合同する / …'を'兼ね備える;(…と)…'を'兼ね合わさせる《+『名』+『with』+『名』》 / …'を'化合させる;(…と)…'を'化合させる《+『名』+『with』+『名』》 / 『結合する』,連合する,合同する / (…と)化合する《+『with』+『名』》 / 連合,合同;(特に)企業合同,政治連合 / (また『combine harvester』)(刈り取りと脱穀が同時にできる)複式収穫機,コンバイン」

WordNet   license wordnet

「add together from different sources; "combine resources"」



  • v.
  • 切断する

WordNet   license wordnet

「set or keep apart; "sever a relationship"」
break up

PrepTutorEJDIC   license prepejdic

「(全体から)…‘を'切断する《+『名』+『from』+『名』》 / (いくつかの部分に)…‘を'分ける《+『名』+『in』(『into』)+『名』》 / 〈関係など〉‘を'断つ / 切れる,分かれる,分裂する」


  [★] 免疫不全症免疫不全症候群

WordNet   license wordnet

「immunological disorder in which some part of the body''s immune system is inadequate and resistance to infectious diseases is reduced」



WordNet   license wordnet

「detached by cutting; "cut flowers"; "a severed head"; "an old tale of Anne Bolyn walking the castle walls with her poor cut-off head under her arm"」
cut off