一种以CD8 + T淋巴细胞缺乏和淋巴细胞活化受损为特征的遗传性免疫缺陷病。
A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation.
作者信息
Monafo W J, Polmar S H, Neudorf S, Mather A, Filipovich A H
机构信息
Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
出版信息
Clin Exp Immunol. 1992 Dec;90(3):390-3. doi: 10.1111/j.1365-2249.1992.tb05856.x.
Abstract
An unusual form of severe combined immunodeficiency in children from two different families was associated with absence of CD8+ T lymphocytes and normal numbers of CD4+ T lymphocytes that did not respond to stimulation by non-specific mitogens, specific antibodies against T cell receptor or specific antigens. The defect in the CD4+ cells was bypassed by activating agents which are independent of the T cell receptor. The combination of an activation defect and selective depletion of CD8+ T lymphocytes suggests that the defective pathway is important in the differentiation of immature thymocytes as well as the proliferation of mature lymphocytes.
摘要
来自两个不同家庭的儿童中出现的一种罕见的严重联合免疫缺陷形式，与CD8⁺ T淋巴细胞缺失以及CD4⁺ T淋巴细胞数量正常但对非特异性丝裂原、抗T细胞受体特异性抗体或特异性抗原刺激无反应有关。CD4⁺细胞的缺陷可被独立于T细胞受体的激活剂绕过。激活缺陷与CD8⁺ T淋巴细胞的选择性耗竭相结合表明，缺陷途径在未成熟胸腺细胞的分化以及成熟淋巴细胞的增殖中起重要作用。
相似文献
1
A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation.一种以CD8 + T淋巴细胞缺乏和淋巴细胞活化受损为特征的遗传性免疫缺陷病。
Clin Exp Immunol. 1992 Dec;90(3):390-3. doi: 10.1111/j.1365-2249.1992.tb05856.x.
2
3
Functional expression of B7/BB1 on activated T lymphocytes.B7/BB1在活化T淋巴细胞上的功能性表达。
J Exp Med. 1993 Mar 1;177(3):845-50. doi: 10.1084/jem.177.3.845.
4
Lineage relationships and developmental kinetics of immature thymocytes: CD3, CD4, and CD8 acquisition in vivo and in vitro.未成熟胸腺细胞的谱系关系和发育动力学：体内和体外CD3、CD4和CD8的获得
J Exp Med. 1990 Dec 1;172(6):1583-8. doi: 10.1084/jem.172.6.1583.
5
Lymphocytes with a CD4+ CD8- CD3- phenotype are effectors of experimental cutaneous graft-versus-host disease.具有CD4+ CD8- CD3-表型的淋巴细胞是实验性皮肤移植物抗宿主病的效应细胞。
Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10890-4. doi: 10.1073/pnas.88.23.10890.
6
Sublethal gamma-radiation induces differentiation of CD4-/CD8- into CD4+/CD8+ thymocytes without T cell receptor beta rearrangement in recombinase activation gene 2-/- mice.亚致死剂量的γ辐射可诱导重组酶激活基因2缺陷型小鼠中CD4-/CD8-胸腺细胞分化为CD4+/CD8+胸腺细胞，且无需T细胞受体β重排。
J Exp Med. 1994 Oct 1;180(4):1517-21. doi: 10.1084/jem.180.4.1517.
7
Differentiation of thymocytes from CD3-CD4-CD8- through CD3-CD4-CD8+ into more mature stages induced by a thymic stromal cell clone.胸腺基质细胞克隆诱导胸腺细胞从CD3-CD4-CD8-经CD3-CD4-CD8+分化为更成熟阶段。
Proc Natl Acad Sci U S A. 1990 Apr;87(7):2750-4. doi: 10.1073/pnas.87.7.2750.
8
T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency.患有X连锁严重联合免疫缺陷的犬类中T淋巴细胞的发育与功能
J Immunol. 1994 Nov 1;153(9):4006-15.
9
10
Induction of long-term H-Y-specific tolerance in female mice given male lymphoid cells while transiently depleted of CD4+ or CD8+ T cells.在雌性小鼠中，当CD4+或CD8+ T细胞暂时耗竭时，给予雄性淋巴细胞可诱导长期的H-Y特异性耐受。
J Exp Med. 1993 Jun 1;177(6):1587-92. doi: 10.1084/jem.177.6.1587.
引用本文的文献
1
Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.49 例 ZAP-70 缺陷患者的临床、免疫和遗传特征：系统评价。
Front Immunol. 2020 May 5;11:831. doi: 10.3389/fimmu.2020.00831. eCollection 2020.
2
Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency.基于吗啉代寡核苷酸对一名患有联合免疫缺陷的成年人中低表达ZAP70突变的校正。
J Allergy Clin Immunol. 2017 May;139(5):1688-1692.e10. doi: 10.1016/j.jaci.2017.02.002. Epub 2017 Feb 17.
3
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.ZAP70缺陷型造血干细胞移植的长期预后
J Clin Immunol. 2016 Oct;36(7):713-24. doi: 10.1007/s10875-016-0316-z. Epub 2016 Jul 20.
4
A novel Zap70 mutation with reduced protein stability demonstrates the rate-limiting threshold for Zap70 in T-cell receptor signalling.一种新型 Zap70 突变，其蛋白稳定性降低，证明了 Zap70 在 T 细胞受体信号转导中的限速阈值。
Immunology. 2014 Mar;141(3):377-87. doi: 10.1111/imm.12199.
5
Impaired immune function in children with Fanconi anaemia.范可尼贫血患儿免疫功能受损。
Br J Haematol. 2011 Jul;154(2):234-40. doi: 10.1111/j.1365-2141.2011.08721.x. Epub 2011 May 4.
6
CD40 ligand deficiency: neurologic sequelae with radiographic correlation.CD40 配体缺陷：伴有影像学相关性的神经后遗症。
Pediatr Neurol. 2009 Dec;41(6):419-27. doi: 10.1016/j.pediatrneurol.2009.07.003.
7
Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.ZAP-70缺陷患者的特异性免疫球蛋白E反应由Syk依赖的T细胞受体信号传导介导。
Immunology. 2001 Jun;103(2):164-71. doi: 10.1046/j.1365-2567.2001.01246.x.
8
Existence of activated and memory CD4+ T cells in peripheral blood and their skin infiltration in CD8 deficiency.外周血中活化及记忆性CD4+ T细胞的存在及其在CD8缺乏时的皮肤浸润情况。
Clin Exp Immunol. 1999 Jan;115(1):124-30. doi: 10.1046/j.1365-2249.1999.00759.x.
9
Role of tyrosine kinases in lymphocyte activation: targets for drug intervention.酪氨酸激酶在淋巴细胞活化中的作用：药物干预靶点
Inflamm Res. 1995 Sep;44(9):357-71. doi: 10.1007/BF01797862.
本文引用的文献
1
The primary immunodeficiencies. (2).原发性免疫缺陷病。（2）。
N Engl J Med. 1984 Aug 2;311(5):300-10. doi: 10.1056/NEJM198408023110506.
2
Familial defect in the surface expression of the T-cell receptor-CD3 complex.T细胞受体-CD3复合物表面表达的家族性缺陷。
N Engl J Med. 1988 Nov 3;319(18):1203-8. doi: 10.1056/NEJM198811033191806.
3
Defective expression of T cell-associated glycoprotein in severe combined immunodeficiency.严重联合免疫缺陷中T细胞相关糖蛋白的表达缺陷。
J Clin Invest. 1986 Mar;77(3):940-6. doi: 10.1172/JCI112393.
4
Interaction between CD4 and class II MHC molecules mediates cell adhesion.CD4 与 II 类主要组织相容性复合体分子之间的相互作用介导细胞黏附。
Nature. 1987;330(6145):256-9. doi: 10.1038/330256a0.
5
An immunodeficiency characterized by defective signal transduction in T lymphocytes.
N Engl J Med. 1989 Mar 16;320(11):696-702. doi: 10.1056/NEJM198903163201104.
6
Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency.人类胸腺髓质中CD8 +细胞的耗竭会导致选择性免疫缺陷。
J Exp Med. 1989 Dec 1;170(6):2177-82. doi: 10.1084/jem.170.6.2177.
7
Severe combined immunodeficiency due to a specific defect in the production of interleukin-2.
N Engl J Med. 1990 Jun 14;322(24):1718-23. doi: 10.1056/NEJM199006143222406.
8
Primary combined immunodeficiency resulting from defective transcription of multiple T-cell lymphokine genes.多种T细胞淋巴因子基因转录缺陷导致的原发性联合免疫缺陷。
Proc Natl Acad Sci U S A. 1990 Dec;87(24):10033-7. doi: 10.1073/pnas.87.24.10033.
9
Beta 2-microglobulin deficient mice lack CD4-8+ cytolytic T cells.β2-微球蛋白缺陷小鼠缺乏CD4-8+细胞溶解性T细胞。
Nature. 1990 Apr 19;344(6268):742-6. doi: 10.1038/344742a0.
10
The CD4 molecule transmits biochemical information important in the regulation of T lymphocyte activity.CD4分子传递对T淋巴细胞活性调节至关重要的生化信息。
Cell Immunol. 1990 Feb;125(2):301-14. doi: 10.1016/0008-8749(90)90086-7.
Zotero 插件