Immunodeficiency reviews最新文献

{"title":"Adenosine deaminase deficiency.","authors":"R Hirschhorn","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Inherited deficiency of the purine salvage enzyme adenosine deaminase (ADA) is responsible for approximately half the cases of autosomal recessive Severe Combined Immunodeficiency (SCID). Deficiency of ADA can also result in a much later-onset, milder immunodeficiency, while lesser degrees of enzyme deficiency can result in either late-onset immunodeficiency or grossly normal immunologic function. The full clinical spectrum of ADA deficiency is currently being more fully defined. Florid pathology is primarily restricted to the immune system and appears to result from accumulation of substrates (adenosine and deoxyadenosine) and metabolites (deoxy ATP). Studies indicate that these metabolites may preferentially accumulate in lymphoid cells and can interfere with lymphoid proliferation and function. There is evidence for several mechanisms, including induction of chromosome breaks, inhibition of ribonucleotide reductase needed for normal DNA synthesis, and inactivation of SAH hydrolase needed for normal methylation reactions. The enzyme is a 40 Kd monomer that is ubiquitous, and diagnosis can be made with many cell types including erythrocytes, lymphocytes and fibroblasts. Prenatal diagnosis has been made with chorionic villous samples, amniotic cells and fetal blood. The gene for ADA resides on the long arm of human chromosome 20, and both the expressed and structural gene have been isolated and characterized. Most patients with ADA SCID have single base pair mutations resulting in amino acid substitutions, although a splicing mutation and a deletion have been described. The treatment of choice is currently bone-marrow transplantation from a histocompatible related donor, if available. Haploidentical transplants have also been successful but appear to have higher failure rates in ADA deficients than in other types of SCID. Enzyme replacement, now using an enzyme modified to increase the half-life and decrease immunogenicity, has been reported as successful but longer-term efficacy remains to be evaluated. The disorder, despite its rarity, is for several reasons considered a prime candidate for gene therapy. Recently success has been obtained in introducing the gene into lymphoid stem cells and achieving long-term expression.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"2 3","pages":"175-98"},"PeriodicalIF":0.0,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13233274","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":"Primary immunodeficiency diseases. Report of a WHO sponsored meeting.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 2","pages":"173-205"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661405","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":"Combined immunodeficiency with defective expression in MHC class II genes.","authors":"C Griscelli,&nbsp;B Lisowska-Grospierre,&nbsp;B Mach","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>MHC class II deficiency is an inherited immunodeficiency disease characterized by the presence of a normal number of T and B lymphocytes and profound anomaly of cellular and humoral responses to foreign antigens. All bone-marrow-derived cells (including B lymphocytes, monocytes and activated T lymphocytes) and also enterocytes and endothelial cells do not express all HLA class II (DR, DQ and DP) molecules on their membrane. It is known that the proper recognition of foreign antigens depends on their presentation, together with HLA class II molecules, on the membrane of antigen-presenting cells. MHC class II deficient combined immunodeficiency confirms the important role of MHC gene products in immune-defence mechanisms. Patients suffer from repeated and severe infections that are frequently the cause of death. The defect in HLA class II expression is the consequence of a lack of synthesis of HLA class II alpha and beta chains in patients' cells. Studies performed at DNA and RNA levels showed that there was no gross abnormality of MHC class II genes and that mRNA for all HLA molecules was not detected in patients' cells. These results, together with segregation studies performed in several families, suggested that the defect in HLA class II gene expression involves a transacting regulatory factor. Direct transcription assays showed that the disease is characterized by an absence of HLA class II gene transcription. An analysis of the specific binding of nuclear proteins from patients' cell lines to HLA class II promotor showed that a specific protein, RF-X, which normally binds to a regulatory sequence common to HLA class II promotors, is affected in MHC class II combined immunodeficiency.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 2","pages":"135-53"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13661404","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":"Deficiency of the first component of human complement.","authors":"K B Reid","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>C1 deficiency results from an absence or lowering of the level of one or more of the proteins C1q, C1r and C1s, which are the subcomponents of the C1 complex of the classical pathway of the serum complement system. The major clinical pattern shown in such deficiency states is an inability to deal effectively with immune complexes, resulting in the typical symptoms associated with immune-complex-related diseases and a great susceptibility to recurrent bacterial infections. Both acquired and genetic deficiencies of the C1 subcomponents have been reported; the possible genetic deficiencies appear quite rare, with only 14 reports of C1q deficiency (involving 24 people) and six reports of C1r/C1s deficiency (involving 11 people) appearing in the literature to date.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 3","pages":"247-60"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13704542","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":"Hyper immunoglobulin E syndrome.","authors":"R S Geha,&nbsp;D Y Leung","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The Hyper Immunoglobulin E(HIE) Syndrome is a rare disorder of unknown etiology associated with extremely high serum IgE levels, serious recurrent infections and chronic dermatitis. The current paper will review the clinical and laboratory manifestations of the HIE Syndrome and discuss them in relationship to underline immunologic abnormalities found in this syndrome.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 2","pages":"155-72"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13838681","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":"Intravenous immunoglobulin: a review.","authors":"M M Eibl,&nbsp;R J Wedgwood","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Intramuscular immunoglobulin products developed for the prophylaxis of viral diseases and used in replacement therapy in immunodeficiency diseases have been superseded by products suitable for intravenous administration. Modified and intact immunoglobulin preparations are available for therapeutic use; only the intact products express full Fc-mediated function and the biological half-life of IgG (3-4 weeks). While adverse reactions to intravenous immunoglobulin (IVIG) do occur, they are infrequent. Rare clusters of non-A, non-B hepatitis after the use of some lots of IVIG have been reported. Transmission of HIV has never been documented. The administration of IVIG in replacement therapy in primary immunodeficiency syndromes and in secondary immunodeficiencies, as well as for the prevention and treatment of infectious diseases, is discussed, and reports of the use of IVIG for immune modulation in autoimmune and immune-complex disease are summarized.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 Suppl ","pages":"1-42"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13838603","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":"Molecular basis of complement deficiencies.","authors":"D H Perlmutter,&nbsp;H R Colten","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Genetically determined human complement deficiencies and genetic deficiencies of the corresponding proteins in other species have been recognized for many years. In the past decade, molecular cloning methods have been utilized to deduce the complete primary structure of most of the complement proteins, determine the structure and chromosomal localization of many complement genes, and to define the basis for complement genetic variants including null alleles.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 2","pages":"105-33"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13838680","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":"Immunodeficiencies in parasitic diseases.","authors":"J P Dessaint,&nbsp;A Capron","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Immunodeficiencies linked to parasitism are mainly seen in protozoan infections. The clinical expression varies from generalized unresponsiveness to failure to mount a protective immune response, non-sterilizing immunity being the common situation in most parasite infections. Besides becoming involved with general mechanisms, such as antigenic competition and induction of suppressor cells, parasites can interfere directly in the immune networks through the release of immunomodulatory factors. Antigenic mimicry, antigenic variation at the molecular level (i.e. change in antigen sequence) or topographical level (i.e., surface versus internal expression), and deviation of the immune response towards production of non-protective and even blocking effectors provide unique models of how an infective microorganism can survive and even take advantage of the immune response of its host to reach an equilibrium between host defence and parasite escape strategies responsible for the chronicity of the infection.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 4","pages":"311-24"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13677796","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-linked lymphoproliferative syndrome.","authors":"J L Sullivan,&nbsp;B A Woda","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The X-linked lymphoproliferative (XLP) syndrome is characterized by a selective immunodeficiency to Epstein-Barr virus (EBV) manifested by severe or fatal infectious mononucleosis and acquired immunodeficiency. Prospective studies in males prior to EBV infection have demonstrate vigorous cytotoxic cellular responses, which are predominantly polyclonally activated alloreactive cytotoxic T cells. Cytotoxic T cells that recognize EBV-infected autologous B cells have been demonstrated. Fatal EBV infections in males with XLP usually result from extensive liver necrosis. Males who survive acute EBV infection demonstrate global cellular immune defects with deficient T-, B- and NK-cell responses. It is hypothesized that uncontrolled alloreactive T-cell responses triggered by EBV-transformed B cells result in the immunopathy of XLP. Genetic studies have demonstrated XLP to be genetically linked to restriction fragment length polymorphisms detected with the DXS42 and DXS37 probes (from Xq26-q27). These probes make detection of carrier females and presymptomatic (EBV-seronegative) XLP males possible. Treatment of males with XLP experiencing acute EBV infection has not been successful, and current efforts are directed at prophylaxis with intravenous gammaglobulin.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 4","pages":"325-47"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13704543","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":"Clinical and immunologic aspects of Kawasaki disease.","authors":"D Y Leung","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Kawasaki disease (KD) is an acute febrile disease of infancy and early childhood characterized by diffuse vasculitis. Although the disease is generally self-limited, 15-25% of children with KD may develop coronary artery aneurysms, and sudden death due to cardiovascular complications can occur. The acute phase of KD is characterized by marked activation of the immune system, increased cytokine production by immune effector cells, and the generation of cytotoxic antibodies directed against vascular endothelial cells stimulated with cytokines. High-dose intravenous gammaglobulin (IVGG) treatment is effective in preventing the occurrence of coronary artery disease in KD. Treatment of patients with IVGG results in a significant increase in circulating suppressor T cells, a decrease in circulating activated helper T cells, and a decrease in spontaneous IgG and IgM synthesis. These observations suggest that IVGG reduces the vascular injury in KD by suppressing the marked immune activation associated with this disease.</p>","PeriodicalId":77170,"journal":{"name":"Immunodeficiency reviews","volume":"1 3","pages":"261-71"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13838684","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}