X連鎖重症複合免疫不全症
WordNet
- the means of connection between things linked in series (同)nexus
- a unit of length equal to 1/100 of a chain
- an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
- a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
- (computing) an instruction that connects one part of a program or an element on a list to another program or list
- join for a common purpose or in a common action; "These forces combined with others"
- harvester that heads and threshes and cleans grain while moving across the field
- add together from different sources; "combine resources"
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- the 24th letter of the Roman alphabet (同)x, ex
PrepTutorEJDIC
- (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
- たいまつ
- …'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
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 病気にかかった / 病的な,不健全な(morbid)
- Christ / Christian
UpToDate Contents
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English Journal
- Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.
- Boisson B1, Quartier P2, Casanova JL3.
- Current opinion in immunology.Curr Opin Immunol.2015 Feb;32:90-105. doi: 10.1016/j.coi.2015.01.005. Epub 2015 Jan 31.
- All the human primary immunodeficiencies (PIDs) recognized as such in the 1950s were Mendelian traits and, whether autosomal or X-linked, displayed recessive inheritance. The first autosomal dominant (AD) PID, hereditary angioedema, was recognized in 1963. However, since the first identification of
- PMID 25645939
- Progress in gene therapy for primary immunodeficiencies using lentiviral vectors.
- Sauer AV1, Di Lorenzo B, Carriglio N, Aiuti A.
- Current opinion in allergy and clinical immunology.Curr Opin Allergy Clin Immunol.2014 Dec;14(6):527-34. doi: 10.1097/ACI.0000000000000114.
- PURPOSE OF REVIEW: This review gives an overview over the most recent progress in the field of lentiviral gene therapy for primary immunodeficiencies (PIDs). The history and state-of-the-art of lentiviral vector development are summarized and the recent advancements for a number of selected diseases
- PMID 25207699
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect.
- Ravell J1, Chaigne-Delalande B, Lenardo M.
- Current opinion in pediatrics.Curr Opin Pediatr.2014 Dec;26(6):713-9. doi: 10.1097/MOP.0000000000000156.
- PURPOSE OF REVIEW: To describe the role of the magnesium transporter 1 (MAGT1) in the pathogenesis of 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia' (XMEN) disease and its clinical implications.RECENT FINDINGS: The magnesium transporter protein M
- PMID 25313976
Japanese Journal
- 原発生免疫不全症に対する遺伝子治療の現状と今後の展望
- 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 36(3), 148-155, 2013-06-30
- NAID 10031185521
- A Mutation in the IL-2 Receptor γ Chain Gene Associated with X-linked Severe Combined Immunodeficiency Accompanying Opisthotonus
- Tohoku journal of experimental medicine 218(1), 1-3, 2009-05-01
- NAID 10025105809
- X連鎖性低ガンマグロブリン血症に合併した多発性大腸癌の1例
Related Links
- According to ClinicalTrials.gov there are currently 13 additional "open" studies for "Combined immunodeficiency, X-linked" (open studies are recruiting volunteers) and 22 "Combined immunodeficiency, X-linked" studies with "all" status.
- Entity page for X-linked lookfordiagnosis.com X-Linked Combined lookfordiagnosis.com X-Linked Combined lookfordiagnosis.com combined immunodeficiency www.nature.com SCID is an X-linked disease wiki.ggc.edu X-linked Recessive Inheritance
★リンクテーブル★
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- 英
- X-linked severe combined immunodeficiency, X-linked combined immunodeficiency disease, XSCID, X-linked SCID
- 同
- X連鎖重症複合免疫不全
- 関
- SCID、ジトリン症候群
[show details]
病因
- deficiency in IL-2 receptor γ chain (common gamma chain(γc))
- deficiency in JAK3
- deficiency in IL-7 receptor
病態
- T cell and NK cells fail to develop normally, whereas B-cell numbers, but not function, are normal(IMM.517)
[★]
X連鎖重症複合免疫不全症, X-linked combined immunodeficiency disease, X-linked SCID
[★]
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
[★]
- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
[★]
- 関
- ally、associate、bind、binding、bond、bonding、combination、combined application、complicate、concomitant、concurrent、conjoin、conjugate、conjugation、conjunction、connect、connection、couple、dock、engage、engagement、join、ligate、linkage、merge、merger、symphysial、union
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- 関
- catenation、link、linkage
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免疫不全症 → 免疫不全症候群