Immunodeficiency最新文献

{"title":"Fc gamma IIA receptor phenotype and opsonophagocytosis in two patients with recurrent bacterial infections.","authors":"E A Sanders, J G Van de Winkel, R G Feldman, M M Voorhorst-Ogink, G T Rijkers, P J Capel, B J Zegers","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19159047","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":"Variants of Nijmegen breakage syndrome and ataxia telangiectasia.","authors":"C M Weemaes,&nbsp;D F Smeets,&nbsp;M Horstink,&nbsp;A Haraldsson,&nbsp;J A Bakkeren","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by telangiectasia, progressive ataxia, sinopulmonary infections and a combined immunodeficiency (usually consisting of IgA deficiency, IgE deficiency, IgG2 and IgG4 deficiency and a disturbed T cell immunity). The alpha-fetoprotein level is elevated. Cytogenetic studies reveal a very specific chromosome instability with multiple chromosome 7 and/or 14 rearrangements (preferential breakpoints 14q32, 14q12, 7q35 and 7p12). X-ray hypersensitivity is one of the hallmarks of the disease. Nijmegen Breakage Syndrome (NBS), an autosomal recessive disorder with some features of AT, was first reported in 1981. At this moment at least 19 patients have been recognized. Clinical symptoms are microcephaly from birth, a peculiar face, growth retardation, repeated respiratory tract infections and renal abnormalities. Immunological, cytogenetic and cell-biological findings in NBS are identical to AT. However, alpha-fetoprotein levels are not increased. A tendency toward malignancy has been demonstrated in both syndromes. Recently, we encountered three patients with variants of these syndromes.</p>","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18520233","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":"Leukocyte adhesion deficiency (LAD) II: a new adhesion defect due to absence of sialyl Lewis X, the ligand for selectins.","authors":"A Etzioni,&nbsp;J M Harlan,&nbsp;S Pollack,&nbsp;L M Phillips,&nbsp;R Gershoni-Baruch,&nbsp;J C Paulson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18520234","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":"Anti-capsular polysaccharide antibody deficiency states.","authors":"G T Rijkers,&nbsp;L A Sanders,&nbsp;B J Zegers","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Antibodies directed to capsular polysaccharides form an essential component in the defence against infections with encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenzae type b. Immune responses to polysaccharide antigens can occur in the absence of a functional thymus and the antigens are therefore designated as thymus independent. However, regulatory T cells may influence the magnitude of the antibody response to capsular polysaccharide antigens. So-called thymus independent type 2 antigens share several features of their immune response such as late development of antibody synthesis in ontogeny, no memory formation and a restricted isotype (IgM, IgG2) and idiotype usage. In infants and young children up to the age of 2 years the antibody response to capsular polysaccharides is inadequate resulting in an increased incidence of diseases such as pneumonia, meningitis, otitis and other forms of bacteremic disease. Anti-capsular polysaccharide antibody deficiency does occur in a number of well defined immunodeficiency syndromes including hypo- or agammaglobulinaemia, selective IgA and/or IgG subclass deficiency, Wiskott-Aldrich syndrome, DiGeorge anomaly and also in acquired immune deficiencies such as AIDS, and some forms of lymphoid malignancies. In elderly and in conditions such as splenectomy an increased incidence of infections with encapsulated bacteria does occur, sometimes but not always on basis of a defect in antibody formation. Clinicians are often confronted with young patients older than 2 years of age suffering from recurrent severe bacterial infections of the respiratory tract. In these patients no overt immunodeficiency is demonstrable but recent results indicated that a small percentage may show a selective defect in the antibody response since upon vaccination with polysaccharide vaccines no increase in antibody titer does occur. Though antibodies to polysaccharide antigens in young children are mainly of the IgM and IgG1 (IgG3) isotype, in older children and adults the polysaccharide antibodies are predominantly localized in the IgG2 subclass. The bridge between IgG2 type antibodies and phagocytosis of encapsulated bacteria is constituted by Fc gamma receptors for IgG2 on effector cells. The recent finding that allotypes of Fc gamma RIIa do exist that either bind or do not bind IgG2 type antibodies strongly suggests that the defence of a given individual to encapsulated bacteria apart from an intact antibody formation and the complement system also is determined by the allotype of the appropriate Fc gamma receptor.(ABSTRACT TRUNCATED AT 400 WORDS)</p>","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19160183","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":"Isolation of cDNA clones mapping around DXS178: a search for human X-linked agammaglobulinaemia gene using yeast artificial chromosomes, cosmids and direct cDNA selection.","authors":"I Vorechovský,&nbsp;J Holland,&nbsp;P Sideras,&nbsp;I Dunham,&nbsp;L Hammarström,&nbsp;C I Smith,&nbsp;D R Bentley,&nbsp;D Vetrie","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>X-linked agammaglobulinaemia (XLA) was previously mapped using genetic linkage analysis to Xq22. No recombinants have been found so far between the XLA locus and DXS178 in over 30 informative meioses. Two overlapping yeast artificial chromosomes (YACs), which cover a region of approximately 1000 kb around DXS178 and form part of a larger YAC contig, were hybridised to an ordered cosmid library constructed from a human fibroblast cell line with karyotype 49,XXXXX. Positive cosmids were gridded in high density arrays onto nylon filters and rescreened with a series of YACs, YAC end probes and additional markers from the region to assign cosmids into intervals. A 640 kb-YAC hybridising to p212 (DXS178) was used for direct selection of PCR-amplified cDNA from two cDNA libraries. To identify the cosmids containing transcribed sequences the enriched cDNA from each library was radiolabelled and hybridised back to positive clones which mapped to the region of interest. These clones were then hybridised to the subcloned enriched cDNA sublibraries. Candidate cDNA clones were isolated, grouped within the region of interest and their position was confirmed by mapping back to the cosmids.</p>","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19158280","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":"Deletions, duplications and triplications of the IGHC region in different Italian populations.","authors":"A Brusco,&nbsp;U Cariota,&nbsp;A Bottaro,&nbsp;C Boccazzi,&nbsp;G Delange,&nbsp;A M Van Leewen,&nbsp;R Galanello,&nbsp;A Plebani,&nbsp;A U Ugazio,&nbsp;M G Guerra","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19158284","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":"Registry of primary immunodeficiencies in Switzerland.","authors":"P Affentranger,&nbsp;A Morell,&nbsp;P Spath,&nbsp;R Seger","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19159052","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":"Progress in Immune Deficiency IV. Proceedings of a meeting of the European Group for Immunodeficiencies. Lugano, Switzerland, 30 September-30 October, 1992.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18909722","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":"Abnormalities of lymphocyte subpopulations in CVI do not correlate with increased production of IL-6.","authors":"F Pandolfi,&nbsp;R Paganelli,&nbsp;A Cafaro,&nbsp;A Oliva,&nbsp;A Giovannetti,&nbsp;E Scala,&nbsp;I Quinti,&nbsp;F Aiuti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have determined the percentages and absolute numbers of lymphocyte subpopulations in 49 patients with common variable immunodeficiency (CVI). In vitro production of IL-6 by PHA-stimulated PBMC of 28 patients was also evaluated. Our data indicate profound alterations in the lymphocyte subpopulations evaluated, including increased CD8 cells (these cells outnumbered CD4 cells in 26 cases), severe defect of CD4 cells (< 400/mm3) in 10 cases and reduction of CD19 cells (< 50/mm3) in 11/41 cases. Increased production in vitro of IL-6 by PBMC of CVI patients does not correlate with the absolute numbers of lymphocytes, lymphocyte subpopulations, or monocytes. In addition, IL-6 was unable to significantly modify the amount of PWM-driven IgM production by CVI cells.</p>","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18907036","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":"Chronic granulomatous disease: towards gene therapy.","authors":"A Thrasher,&nbsp;A Segal,&nbsp;C Casimir","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Failure of a superoxide generating system, the NADPH oxidase, present in neutrophils and other phagocytes gives rise to chronic granulomatous disease (CGD), a group of single gene inherited disorders all characterised by an extreme susceptibility to pyogenic infection, with potentially fatal consequences. About 30% of CGD cases are due to an autosomally inherited deficiency of a 47 kDa cytoplasmic component of the oxidase (p47-phox). Epstein-Barr virus (EBV) immortalised B-lymphocyte lines established from these CGD patients also express this NADPH oxidase defect and consequently are rendered incapable of generating superoxide on stimulation. We have utilised a p47-phox-deficient EBV-transformed B cell line as a recipient for retroviral transfer of a functional p47-phox cDNA. The presence and activity of the retrovirally encoded p47-phox in the transduced cells is demonstrated and we show that this restores their capacity to generate superoxide.</p>","PeriodicalId":79340,"journal":{"name":"Immunodeficiency","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19158259","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}