C8 deficiency in a family with xeroderma pigmentosum
Identifieur interne : 001008 ( Istex/Corpus ); précédent : 001007; suivant : 001009C8 deficiency in a family with xeroderma pigmentosum
Auteurs : G. Giraldo ; L. Degos ; E. Beth ; M. Sasportes ; A. Marcelli ; R. Gharbi ; Noorbibi K. DaySource :
- Clinical Immunology and Immunopathology [ 0090-1229 ] ; 1977.
Abstract
The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC.
Url:
DOI: 10.1016/0090-1229(77)90002-2
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Degos</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Beth, E" sort="Beth, E" uniqKey="Beth E" first="E." last="Beth">E. 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Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</mods:affiliation></affiliation><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation><affiliation><mods:affiliation>3N. K. 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Giraldo</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Degos, L" sort="Degos, L" uniqKey="Degos L" first="L." last="Degos">L. Degos</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Beth, E" sort="Beth, E" uniqKey="Beth E" first="E." last="Beth">E. Beth</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Sasportes, M" sort="Sasportes, M" uniqKey="Sasportes M" first="M." last="Sasportes">M. Sasportes</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Marcelli, A" sort="Marcelli, A" uniqKey="Marcelli A" first="A." last="Marcelli">A. Marcelli</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Gharbi, R" sort="Gharbi, R" uniqKey="Gharbi R" first="R." last="Gharbi">R. Gharbi</name><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation></author><author><name sortKey="Day, Noorbibi K" sort="Day, Noorbibi K" uniqKey="Day N" first="Noorbibi K." last="Day">Noorbibi K. Day</name><affiliation><mods:affiliation>Send reprint requests to Dr. Noorbibi K. Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</mods:affiliation></affiliation><affiliation><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation></affiliation><affiliation><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation></affiliation><affiliation><mods:affiliation>3N. K. Day is an Established Investigator of the American Heart Association.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Clinical Immunology and Immunopathology</title><title level="j" type="abbrev">YCLIN</title><idno type="ISSN">0090-1229</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1977">1977</date><biblScope unit="volume">8</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="377">377</biblScope><biblScope unit="page" to="384">384</biblScope></imprint><idno type="ISSN">0090-1229</idno></series><idno type="istex">4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC</idno><idno type="DOI">10.1016/0090-1229(77)90002-2</idno><idno type="PII">0090-1229(77)90002-2</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0090-1229</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>G. Giraldo</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>L. Degos</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>E. Beth</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>M. Sasportes</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>A. Marcelli</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>R. Gharbi</name><affiliations><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Noorbibi K. Day</name><affiliations><json:string>Send reprint requests to Dr. Noorbibi K. Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</json:string><json:string>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</json:string><json:string>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</json:string><json:string>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</json:string><json:string>3N. K. Day is an Established Investigator of the American Heart Association.</json:string></affiliations></json:item></author><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC.</abstract><qualityIndicators><score>3.636</score><pdfVersion>1.3</pdfVersion><pdfPageSize>468.28 x 698 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>646</abstractCharCount><pdfWordCount>2436</pdfWordCount><pdfCharCount>15424</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>100</abstractWordCount></qualityIndicators><title>C8 deficiency in a family with xeroderma pigmentosum</title><pii><json:string>0090-1229(77)90002-2</json:string></pii><genre><json:string>research-article</json:string></genre><host><volume>8</volume><pii><json:string>S0090-1229(00)X0087-6</json:string></pii><pages><last>384</last><first>377</first></pages><issn><json:string>0090-1229</json:string></issn><issue>3</issue><genre><json:string>journal</json:string></genre><language><json:string>unknown</json:string></language><title>Clinical Immunology and Immunopathology</title><publicationDate>1977</publicationDate></host><categories><wos><json:string>IMMUNOLOGY</json:string><json:string>PATHOLOGY</json:string></wos></categories><publicationDate>1977</publicationDate><copyrightDate>1977</copyrightDate><doi><json:string>10.1016/0090-1229(77)90002-2</json:string></doi><id>4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC</id><score>0.05006977</score><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a">C8 deficiency in a family with xeroderma pigmentosum</title><title level="a" type="sub">Lack of linkage to the HLA region</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>ELSEVIER</p></availability><date>1977</date></publicationStmt><notesStmt><note>This work was presented in part at the First International Symposium on HLA and Disease, Paris, France, June 23–25, 1976.</note><note>This work was supported in part by USPHS NC1 Grant CA-08748-11, NIH Grant CA-18488-01, and American Heart Association Grant-in-Aid 75–912.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">C8 deficiency in a family with xeroderma pigmentosum</title><title level="a" type="sub">Lack of linkage to the HLA region</title><author xml:id="author-1"><persName><forename type="first">G.</forename><surname>Giraldo</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-2"><persName><forename type="first">L.</forename><surname>Degos</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-3"><persName><forename type="first">E.</forename><surname>Beth</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-4"><persName><forename type="first">M.</forename><surname>Sasportes</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-5"><persName><forename type="first">A.</forename><surname>Marcelli</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-6"><persName><forename type="first">R.</forename><surname>Gharbi</surname></persName><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation></author><author xml:id="author-7"><persName><forename type="first">Noorbibi K.</forename><surname>Day</surname></persName><affiliation>Send reprint requests to Dr. Noorbibi K. Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</affiliation><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><affiliation>3N. K. Day is an Established Investigator of the American Heart Association.</affiliation></author></analytic><monogr><title level="j">Clinical Immunology and Immunopathology</title><title level="j" type="abbrev">YCLIN</title><idno type="pISSN">0090-1229</idno><idno type="PII">S0090-1229(00)X0087-6</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1977"></date><biblScope unit="volume">8</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="377">377</biblScope><biblScope unit="page" to="384">384</biblScope></imprint></monogr><idno type="istex">4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC</idno><idno type="DOI">10.1016/0090-1229(77)90002-2</idno><idno type="PII">0090-1229(77)90002-2</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1977</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC.</p></abstract></profileDesc><revisionDesc><change when="1977">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla"><item-info><jid>YCLIN</jid><aid>77900022</aid><ce:pii>0090-1229(77)90002-2</ce:pii><ce:doi>10.1016/0090-1229(77)90002-2</ce:doi><ce:copyright type="unknown" year="1977"></ce:copyright></item-info><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>This work was presented in part at the First International Symposium on HLA and Disease, Paris, France, June 23–25, 1976.</ce:note-para></ce:article-footnote><ce:article-footnote><ce:label>☆☆</ce:label><ce:note-para>This work was supported in part by USPHS NC1 Grant CA-08748-11, NIH Grant CA-18488-01, and American Heart Association Grant-in-Aid 75–912.</ce:note-para></ce:article-footnote><ce:title>C8 deficiency in a family with xeroderma pigmentosum</ce:title><ce:subtitle>Lack of linkage to the HLA region</ce:subtitle><ce:author-group><ce:author><ce:given-name>G.</ce:given-name><ce:surname>Giraldo</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>L.</ce:given-name><ce:surname>Degos</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>E.</ce:given-name><ce:surname>Beth</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>M.</ce:given-name><ce:surname>Sasportes</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>A.</ce:given-name><ce:surname>Marcelli</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>R.</ce:given-name><ce:surname>Gharbi</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Noorbibi K.</ce:given-name><ce:surname>Day</ce:surname><ce:cross-ref refid="COR1"><ce:sup>4</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF3"><ce:sup>c</ce:sup></ce:cross-ref><ce:cross-ref refid="FN1"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="AFF1"><ce:label>a</ce:label><ce:textfn>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>b</ce:label><ce:textfn>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</ce:textfn></ce:affiliation><ce:affiliation id="AFF3"><ce:label>c</ce:label><ce:textfn>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</ce:textfn></ce:affiliation><ce:correspondence id="COR1"><ce:label>4</ce:label><ce:text>Send reprint requests to Dr. Noorbibi K. Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</ce:text></ce:correspondence><ce:footnote id="FN1"><ce:label>3</ce:label><ce:note-para>N. K. Day is an Established Investigator of the American Heart Association.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="10" month="8" year="1976"></ce:date-received><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen <ce:italic>et al.</ce:italic> (1) and Merritt <ce:italic>et al.</ce:italic> (2) where the C8-defective gene was closely linked to MHC.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>C8 deficiency in a family with xeroderma pigmentosum</title><subTitle>Lack of linkage to the HLA region</subTitle></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>C8 deficiency in a family with xeroderma pigmentosum</title><subTitle>Lack of linkage to the HLA region</subTitle></titleInfo><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Giraldo</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Degos</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E.</namePart><namePart type="family">Beth</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Sasportes</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Marcelli</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Gharbi</namePart><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Noorbibi K.</namePart><namePart type="family">Day</namePart><affiliation>Send reprint requests to Dr. Noorbibi K. Day, Sloan-Kettering Institute for Cancer Research, 425 East 68 Street, New York, N.Y. 10021.</affiliation><affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</affiliation><affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</affiliation><affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</affiliation><affiliation>3N. K. Day is an Established Investigator of the American Heart Association.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1977</dateIssued><copyrightDate encoding="w3cdtf">1977</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">The present study describes a large pedigree (23 members) of a Tunisian family with C8 deficiency and with a high incidence of xeroderma pigmentosum. It is shown in this study that, although the C8 deficiency is transmitted as an autosomal trait (three homozygous and five heterozygous individuals), heterozygote carriers having half-normal levels of C8 functionally and immunochemically, there is no close linkage between the C8-defective chromosome and the HLA antigen. These observations are in contrast to studies of another family described by Petersen et al. (1) and Merritt et al. (2) where the C8-defective gene was closely linked to MHC.</abstract><note>This work was presented in part at the First International Symposium on HLA and Disease, Paris, France, June 23–25, 1976.</note><note>This work was supported in part by USPHS NC1 Grant CA-08748-11, NIH Grant CA-18488-01, and American Heart Association Grant-in-Aid 75–912.</note><relatedItem type="host"><titleInfo><title>Clinical Immunology and Immunopathology</title></titleInfo><titleInfo type="abbreviated"><title>YCLIN</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">197711</dateIssued></originInfo><identifier type="ISSN">0090-1229</identifier><identifier type="PII">S0090-1229(00)X0087-6</identifier><part><date>197711</date><detail type="volume"><number>8</number><caption>vol.</caption></detail><detail type="issue"><number>3</number><caption>no.</caption></detail><extent unit="issue pages"><start>367</start><end>579</end></extent><extent unit="pages"><start>377</start><end>384</end></extent></part></relatedItem><identifier type="istex">4E02410E62A1A6D8B5B10EB7D1A0E50C434609BC</identifier><identifier type="DOI">10.1016/0090-1229(77)90002-2</identifier><identifier type="PII">0090-1229(77)90002-2</identifier><recordInfo><recordContentSource>ELSEVIER</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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