Immunodeficiency reviews最新文献

{"title":"Cellular abnormalities in common variable immunodeficiency.","authors":"G P Spickett,&nbsp;A D Webster,&nbsp;J Farrant","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In most patients with common variable immunodeficiency (CVI) there is evidence for an intrinsic B cell defect, despite an apparently normal cell phenotype. There are at least five separate subgroups of CVI, based on B cell function. These groups may be variations in severity of a single defect, or distinct molecular defects. At least some patients may have an abnormality in the secretory process of the B cell. The existence of patients whose cells can secrete IgM and IgG in vitro and yet are hypogammaglobulinaemic in vivo implies that the architecture of lymphoid organs or the traffic of lymphoid cells may be involved in the pathogenesis of the disease. The data on T cell defects in CVI indicates that, with sensitive assays, many patients have some abnormality. In the face of a much more defined B cell defect it is not yet possible to assess the overall contribution of the T cell defects to the immune failure.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 3","pages":"199-219"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13233275","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}

{"title":"HIV-related thrombocytopenia.","authors":"E Oksenhendler,&nbsp;M Seligmann","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>About 5-10% of HIV seropositive individuals, in all risk groups, develop a syndrome of immunological thrombocytopenic purpura (ITP). Despite the clear association between HIV infection and thrombocytopenia, the exact immune mechanism leading to the peripheral platelet destruction remains unclear. Whereas some data support the direct effect of autoantibodies to platelet constituents, other findings argue in favour of the deposition of immune complexes containing anti-HIV antibodies. Although viral components could not be detected in the immune complexes or on the platelet membrane, megakaryocytes were shown to contain viral RNA and there is some evidence for a direct or indirect role of HIV in the pathophysiology of this disorder. Steroids, intravenous high dose polyvalent immunoglobulin, anti-rhesus immunoglobulin, danazol and vincristine usually induce only a transient increase in platelet counts. Zidovudine was shown to provide a sustained response in 40-60% of the patients and appears to be the treatment of choice for HIV-related thrombocytopenia. Splenectomy has been effective in many cases with persistent, profound and symptomatic thrombocytopenia and, on a 4-year follow-up, does not influence the progression rate to AIDS or survival. Patients with thrombocytopenia are not at greater risk for the development of AIDS than seropositive non-thrombocytopenic patients. Thus, thrombocytopenia should not be viewed as a stage in the progression from asymptomatic infection to AIDS.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 3","pages":"221-31"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13305311","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}

{"title":"X chromosome linked immunodeficiency.","authors":"J Schwaber,&nbsp;F S Rosen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Six human immunodeficiency diseases have been associated with the X chromosome by family studies. Genetic mapping with restriction fragment length polymorphisms (RFLPs) has permitted assignment of these diseases to specific loci on the X chromosome. Each of the disease entities maps to a single locus, confirming that the diagnostic criteria describe single diseases. X-linked chronic granulomatous disease and Wiskott-Aldrich syndrome map to loci on the short arm of the X chromosome; X-linked severe combined immunodeficiency, X-linked agammaglobulinemia, X-linked immunodeficiency with hyper-IgM, and X-linked lymphoproliferative syndrome map to loci on the long arm. Lyon's hypothesis predicts that these X-linked immunodeficiencies may be detectable in carriers of the diseases as a result of X chromosome inactivation of the normal disease gene. Four of the immunodeficiency diseases, X-linked agammaglobulinemia, X-linked severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and X-linked chronic granulomatous disease, affect cellular development so that carriers have a monomorphic population of immunocytes. The specific immunocyte development affected in carriers varies according to the disease. Genetic mapping of the diseases, with a collection of informative RFLPs, provides a tool that permits probability-based prenatal diagnosis. Carrier detection complements the RFLP-based genetic mapping, serving to confirm X-linkage in carriers.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 3","pages":"233-51"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13139754","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}

{"title":"Genetic aspects of ataxia-telangiectasia.","authors":"M Swift","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome whose principal features are progressive cerebellar ataxia, oculocutaneous telangiectasia, varied immune defects, a high cancer incidence, and clinical and cellular sensitivity to ionizing radiation and certain radiomimetic compounds. Cell and chromosome complementation studies have provided some evidence that mutations leading to the A-T phenotype may have occurred at more than one locus. Mapping with DNA polymorphisms has localized the predominant A-T mutation to chromosome 11q22-23. Heterozygous carriers of an A-T allele constitute about 1% of the United States population and are at a high risk for certain cancers, most notably female breast cancer. Cloning of the A-T allele(s) will assist in the early or prenatal diagnosis of A-T and provide a firm basis for determining who, in the general population, carries this gene and is therefore at a high risk of cancer.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 1","pages":"67-81"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13349130","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}

{"title":"IgG subclass deficiency.","authors":"J L Preud'homme,&nbsp;L A Hanson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Although the occurrence of selective deficiencies of serum IgG subclasses has been known for 20 years, the large body of data presently available was collected only recently owing to the use of performing monoclonal antibodies. IgG subclass deficiency is frequent, both as an apparently isolated defect (about one fourth of patients suffering otherwise unexplained repeated infections) and in association with a number of primary and required immunodeficiency states. This paper briefly reviews the methodological problems of serum IgG subclass measurement and data on subclass deficiency in a variety of clinical conditions.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 2","pages":"129-49"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13375041","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}

{"title":"Sialophorin (CD43) and the Wiskott-Aldrich syndrome.","authors":"E Remold-O'Donnell,&nbsp;F S Rosen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Wiskott-Aldrich syndrome is an inherited deficiency of T-lymphocyte function and of platelets. The observation in 1981-84 of deficiency and/or defects in Wiskott-Aldrich lymphocytes of the surface molecule sialophorin (CD43) spurred intensive study of this molecule. Sialophorin (CD43) is now known to be a prevalent molecule on most circulating blood cells; it is a transmembrane molecule subject to phosphorylation reactions and capable of intracellular signaling. Oligosaccharides constitute 60% of the molecule. The extracellular region resembles acidic mucin molecules with expanded structure and dense negative charge. The sialophorin (CD43) polypeptide is subject to alternative glycosylation pathways that are cell-specific. CD43 functions in vitro as the receptor of an independent pathway of T-lymphocyte and monocyte activation. CD43 is hypothesized to regulate the survival of blood cells in the circulation. This review covers the distribution, chemistry, cDNA cloning, genetic analysis and functional analysis of CD43, and summarizes recent findings of related defects in Wiskott-Aldrich lymphocytes.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 2","pages":"151-74"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13375042","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}

{"title":"The CD4 molecule and HIV infection.","authors":"D R Klatzmann,&nbsp;J S McDougal,&nbsp;P J Maddon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>CD4 (T4), a glycoprotein expressed largely on the surface of cells in the immune system, serves as the receptor for the human immunodeficiency virus, HIV. The isolation of the CD4 gene has permitted an analysis of the structure of CD4 and its role in both HIV infection and the immune response. Recently, new classes of CD4-based therapeutics have been generated that interfere with HIV attachment to target cells. Soluble CD4 proteins and CD4-based chimeric molecules are currently undergoing clinical evaluation in HIV-infected individuals.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 1","pages":"43-66"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13131798","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}

{"title":"Deficiencies of human C3 complement receptors type 1 (CR1, CD35) and type 2 (CR2, CD21).","authors":"M D Kazatchkine,&nbsp;D T Fearon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>CR1 (CD35) and CR2 (CD21) are structurally related integral transmembrane glycoproteins that function as cellular receptors for human C3b and C3dg, respectively. The primary sequence of the most common structural allotype of CR1 and that of CR2 have been established, and ligand binding on the molecules has been mapped. CR1 and CR2 genes are located in close vicinity in the RCA locus of chromosome 1. CR1 has a wide cellular/tissular distribution and mediates a variety of biologic functions, including the transport of C3-bearing immune complexes on erythrocytes, enhancement of phagocytosis, induction of IL-1 secretion and enhancement of B-cell differentiation. Expression of CR2 is restricted to B lymphocytes and follicular dendritic cells. The receptor modulates B-cell growth. CR2 also serves as the receptor for EBV and determines the cellular tropism of the virus. This review discusses the molecular biology and functional characteristics of CR1 and CR2. It focuses on alterations of expression of the receptors in disease, with particular emphasis on the genetic and acquired factors that contribute to the defective expression of CR1 in patients with systemic lupus erythematosus.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 1","pages":"17-41"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13318698","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}

{"title":"Congenital T-cell receptor immunodeficiencies in man.","authors":"B Alarcon,&nbsp;C Terhorst,&nbsp;A Arnaiz-Villena,&nbsp;P Perez-Aciego,&nbsp;J R Regueiro","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The T-cell receptor (TCR) for antigen is a complex consisting of at least seven polypeptides chains. Two chains form the clonotypic heterodimer, which determines antigen-specificity. The other five constitute the monomorphic CD3 components, which are thought to be involved in signal transduction. We have reported a familial defect in the surface expression of the TCR/CD3 complex on otherwise phenotypically normal T lymphocytes. As a consequence of the surface defect, an impaired T-lymphocyte activation through the TCR and CD3 complex by both antigens and mitogens is observed in this type of immunodeficiency (ID) for which we propose the name TCR ID. In contrast, normal proliferative responses were recorded to TCR-independent activation or proliferation signals (i.e: anti-CD2, phorbol esters and IL-2). We believe that other ID with similar clinical and immunological characteristics, described before the general availability of monoclonal antibodies, may have also been TCR ID. Severe and mild clinical phenotypes of the disease exist which correlate with differences in the levels of TCR surface expression and of T-cell function in vitro. The biochemical basis of the defect in one of the cases thus far studied is an impaired association of CD3-zeta chain with the other chains of the complex. This defect prevented the maturation and transport of the incomplete complex to the cell surface. Due to the multi-subunit nature of the TCR/CD3 complex it is possible that other biochemical defects in TCR assembly may also give rise to TCR ID. The description of mild as well as a severe phenotype in TCR ID points to a threshold effect of TCR/CD3 expression necessary for normal T cell function in vivo since mild TCR ID is clinically asymptomatic. In contrast, severe TCR ID behaves as a clinical SCID, with clear autoimmune features and profound lymphoid tissue depletion. TCR ID and other naturally occurring SCID variants may shed light on fundamental questions of the development, function and biochemistry of the in vivo immune system. Their study and characterization also opens the door to somatic gene therapy in this kind of disorder, which is an obvious goal in ID research.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 1","pages":"1-16"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13296397","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}

{"title":"Pediatric HIV infection: a review.","authors":"T A Calvelli,&nbsp;A Rubinstein","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 2","pages":"83-127"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13375043","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}