Immunodeficiency最新文献_第4页

Clinical and immunological follow-up in children with hyper-IgD syndrome. 儿童高igd综合征的临床和免疫学随访。

Immunodeficiency Pub Date : 1993-01-01

A Haraldsson, C M Weemaes, A W de Boer, J A Bakkeren

引用次数: 0

Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. 肠上皮内γ / δ T细胞b细胞缺乏症。

Immunodeficiency Pub Date : 1993-01-01

D E Nilssen, T S Halstensen, S S Frøland, O Fausa, P Brandtzaeg

引用次数: 0

Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). 聚乙二醇修饰的腺苷脱氨酶(PEG-ADA)替代酶治疗腺苷脱氨酶缺乏症。

Immunodeficiency Pub Date : 1993-01-01

M S Hershfield

引用次数: 0

Gene deletion as a cause of associated deficiency of IgA1, IgG2, IgG4 and IgE. 基因缺失是导致IgA1, IgG2, IgG4和IgE相关缺陷的原因。

Immunodeficiency Pub Date : 1993-01-01

A Plebani, A O Carbonara, A Bottaro, R Gallina, C Boccazzi, P Crispino, L Ruggeri, F Salvioni, M Duina, A Negrini

引用次数: 0

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes? x连锁严重联合免疫缺陷疾病的变异形式:一个还是多个基因?

Immunodeficiency Pub Date : 1993-01-01

J P Disanto, F Le Deist, M Caniglia, S Markiewicz, Y Lebranchu, C Griscelli, A Fischer, G De Saint-Basile

引用次数: 0

T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma. T淋巴细胞信号缺陷和免疫缺陷由于缺乏CD3 γ。

Immunodeficiency Pub Date : 1993-01-01

A Arnaiz-Villena, M Timon, C Rodriguez-Gallego, P Iglesias-Casarrubios, A Pacheco, J R Regueiro

{"title":"T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma.","authors":"A Arnaiz-Villena, M Timon, C Rodriguez-Gallego, P Iglesias-Casarrubios, A Pacheco, J R Regueiro","doi":"","DOIUrl":"","url":null,"abstract":"A selective CD3 gamma defect, involving point mutations in both the paternal and the maternal genes, has been analyzed. The CD3 gamma defect affected two brothers of a four sibs family; one of them died at the age of 3 of a viral pneumonia with concomitant autoimmune features (Haemolytic anaemia and gut epithelial cell autoantibodies), whereas the other is still alive at the age of 10 with relatively mild infection episodes. In this work, the effects of the absence of the CD3 gamma chain in the structure and signal transduction of the T-cell receptor (TCR)/CD3 complex and in the selection and function of T lymphocytes were studied. The absence of CD3 gamma did not prevent the expression of certain amounts of TCR/CD3 complexes on the surface of T lymphocytes. This suggests the existence of at least two TCR/CD3 isoforms in T cells, either with or without CD3 gamma. A persistent low proportion of CD8+ T cells, not functional in vitro (they were unable to proliferate) and probably in vivo (associated to a lethal viral pneumonia), was observed. In contrast, the proportion of CD4+ T cells was not altered, and they were functional both in vitro (they showed a normal proliferation and a low, but detectable, increase of cytosolic Ca2+ in response to anti-TCR/CD3 stimuli, although the production of IL-2 was impaired) and in vitro (they normally helped B cells). These results show that the absence of CD3 gamma affects the selection and function of cytotoxic, but apparently not helper, T lymphocytes, although the possibility that the CD4+ T cells represent a specific subpopulation can not be ruled out. They also suggest that the interactions of the TCR/CD3 complex with its co-receptors during thymic selection and antigen recognition in the periphery may be asymmetrical, with CD8 interacting through CD3 gamma and, probably, CD4 through the homologous CD3 delta.","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":"4 1-4","pages":"121-9"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18909723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bone marrow gene therapy for adenosine deaminase deficiency. 骨髓基因治疗腺苷脱氨酶缺乏症。

Immunodeficiency Pub Date : 1993-01-01

L C Kaptein, M P Einerhand, E Braakman, D Valerio, V W van Beusechem

{"title":"Bone marrow gene therapy for adenosine deaminase deficiency.","authors":"L C Kaptein, M P Einerhand, E Braakman, D Valerio, V W van Beusechem","doi":"","DOIUrl":"","url":null,"abstract":"Deficiency of adenosine deaminase (ADA) results in severe combined immunodeficiency disease (SCID). The cause for this is believed to be the accumulation of one of the substrates for ADA, 2'-deoxyadenosine to which especially T cells are hypersensitive. This disease can be treated successfully with bone marrow transplantation if a suitable donor is available. Alternatively, the human ADA gene could be introduced into the autologous bone marrow. We have generated a retroviral vector containing the human ADA gene. With this vector we were able to restore human ADA-activity in ADA-SCID T cells to normal levels resulting in a sensitivity to 2'-deoxyadenosine that is also found for T cells from a healthy donor. In murine studies we have shown that our retrovirus can infect pluripotent hemopoietic stem cells resulting in long-term (> 6 months) expression of human ADA in the hemopoietic system of transplanted animals. These results were confirmed in rhesus monkeys where we were able to detect the provirus in both peripheral blood mononuclear cells and granulocytes for as long as the animals were analyzed, i.e. up to more than 1 year post bone marrow transplantation. On the basis of these results we have proposed a clinical protocol for the treatment of ADA-SCID patients with bone marrow gene therapy.","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":"4 1-4","pages":"335-45"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18907037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bone marrow transplantation for hyper-IgM syndrome. 骨髓移植治疗高igm综合征。

Immunodeficiency Pub Date : 1993-01-01

A Fasth

引用次数: 0

Necrotic ulceration of the nose in a patient with primary immunodeficiency syndrome characterized by severe defects in the production of cytokines. 原发性免疫缺陷综合征患者鼻子的坏死性溃疡，其特征是产生细胞因子的严重缺陷。

Immunodeficiency Pub Date : 1993-01-01

C Koch, F K Pedersen, K Bendtzen, L Ryder

引用次数: 0

Clinical significance and immunological basis of candidal infections in immunodeficiency disorders. 免疫缺陷疾病念珠菌感染的临床意义及免疫学基础。

Immunodeficiency Pub Date : 1993-01-01

L Maródi

引用次数: 0