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Beta Actin G342D as a Cause of Natural Killer Cell Deficiency Impairing Lytic Synapse Termination
Beta Actin G342D as a Cause of Natural Killer Cell Deficiency Impairing Lytic Synapse Termination
상세정보
- 자료유형
- 학위논문 서양
- 최종처리일시
- 20250211151049
- ISBN
- 9798382328706
- DDC
- 616.079
- 서명/저자
- Beta Actin G342D as a Cause of Natural Killer Cell Deficiency Impairing Lytic Synapse Termination
- 발행사항
- [Sl] : Columbia University, 2024
- 발행사항
- Ann Arbor : ProQuest Dissertations & Theses, 2024
- 형태사항
- 138 p
- 주기사항
- Source: Dissertations Abstracts International, Volume: 85-11, Section: B.
- 주기사항
- Advisor: Orange, Jordan S.
- 학위논문주기
- Thesis (Ph.D.)--Columbia University, 2024.
- 초록/해제
- 요약Natural killer (NK) cell deficiency (NKD) occurs when an individual's major clinical immunodeficiency derives from abnormal NK cells and is associated with several genetic etiologies. Three categories of β actin-related diseases with over 60 ACTB variants have previously been identified, none with a distinct NK cell phenotype. An individual with mild developmental delay, macrothrombocytopenia, susceptibility to infections, molluscum, and EBV-associated lymphoma had functional NK cell deficiency for over a decade. A de novo ACTB variant encoding G342D β actin was identified and was consistent with the individual's developmental and platelet phenotype. This novel variant also was found to have a direct impact in NK cells, as its expression in YTS (YTS-NKD) cells caused increased cell spreading in lytic immune synapses created on activating surfaces. YTS-NKD cells were able to degranulate and perform cytotoxicity, but demonstrated defective serial killing owing to prolonged conjugation to the killed target cell and thus were effectively unable to terminate lytic synapses. G342D β actin results in a novel mechanism of functional NKD via increased synaptic spreading and defective lytic synapse termination with resulting impaired serial killing leading to overall reductions in NK cell cytotoxicity.
- 일반주제명
- Immunology
- 일반주제명
- Cellular biology
- 일반주제명
- Molecular biology
- 키워드
- Beta actin
- 키워드
- Cytotoxicity
- 기타저자
- Columbia University Microbiology Immunology and Infection
- 기본자료저록
- Dissertations Abstracts International. 85-11B.
- 전자적 위치 및 접속
- 로그인 후 원문을 볼 수 있습니다.
MARC
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■040 ▼aMiAaPQ▼cMiAaPQ
■0820 ▼a616.079
■1001 ▼aReed, Abigail Elizabeth.
■24510▼aBeta Actin G342D as a Cause of Natural Killer Cell Deficiency Impairing Lytic Synapse Termination
■260 ▼a[Sl]▼bColumbia University▼c2024
■260 1▼aAnn Arbor▼bProQuest Dissertations & Theses▼c2024
■300 ▼a138 p
■500 ▼aSource: Dissertations Abstracts International, Volume: 85-11, Section: B.
■500 ▼aAdvisor: Orange, Jordan S.
■5021 ▼aThesis (Ph.D.)--Columbia University, 2024.
■520 ▼aNatural killer (NK) cell deficiency (NKD) occurs when an individual's major clinical immunodeficiency derives from abnormal NK cells and is associated with several genetic etiologies. Three categories of β actin-related diseases with over 60 ACTB variants have previously been identified, none with a distinct NK cell phenotype. An individual with mild developmental delay, macrothrombocytopenia, susceptibility to infections, molluscum, and EBV-associated lymphoma had functional NK cell deficiency for over a decade. A de novo ACTB variant encoding G342D β actin was identified and was consistent with the individual's developmental and platelet phenotype. This novel variant also was found to have a direct impact in NK cells, as its expression in YTS (YTS-NKD) cells caused increased cell spreading in lytic immune synapses created on activating surfaces. YTS-NKD cells were able to degranulate and perform cytotoxicity, but demonstrated defective serial killing owing to prolonged conjugation to the killed target cell and thus were effectively unable to terminate lytic synapses. G342D β actin results in a novel mechanism of functional NKD via increased synaptic spreading and defective lytic synapse termination with resulting impaired serial killing leading to overall reductions in NK cell cytotoxicity.
■590 ▼aSchool code: 0054.
■650 4▼aImmunology
■650 4▼aCellular biology
■650 4▼aMolecular biology
■653 ▼aBeta actin
■653 ▼aCytotoxicity
■653 ▼aInborn errors of immunity
■653 ▼aNatural killer cells
■653 ▼aNatural killer cell deficiency
■690 ▼a0982
■690 ▼a0379
■690 ▼a0307
■71020▼aColumbia University▼bMicrobiology, Immunology and Infection.
■7730 ▼tDissertations Abstracts International▼g85-11B.
■790 ▼a0054
■791 ▼aPh.D.
■792 ▼a2024
■793 ▼aEnglish
■85640▼uhttp://www.riss.kr/pdu/ddodLink.do?id=T17160612▼nKERIS▼z이 자료의 원문은 한국교육학술정보원에서 제공합니다.
