C8 deficiency in a family with xeroderma pigmentosum
Identifieur interne : 000B45 ( Istex/Curation ); précédent : 000B44; suivant : 000B46C8 deficiency in a family with xeroderma pigmentosum
Auteurs : G. Giraldo [États-Unis, France, Tunisie] ; L. Degos [États-Unis, France, Tunisie] ; E. Beth [États-Unis, France, Tunisie] ; M. Sasportes [États-Unis, France, Tunisie] ; A. Marcelli [États-Unis, France, Tunisie] ; R. Gharbi [États-Unis, France, Tunisie] ; Noorbibi K. Day [États-Unis, France, Tunisie]Source :
- 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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Giraldo</name><affiliation wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Degos, L" sort="Degos, L" uniqKey="Degos L" first="L." last="Degos">L. 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Beth</name><affiliation wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Sasportes, M" sort="Sasportes, M" uniqKey="Sasportes M" first="M." last="Sasportes">M. Sasportes</name><affiliation wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Marcelli, A" sort="Marcelli, A" uniqKey="Marcelli A" first="A." last="Marcelli">A. Marcelli</name><affiliation wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></affiliation></author><author><name sortKey="Gharbi, R" sort="Gharbi, R" uniqKey="Gharbi R" first="R." last="Gharbi">R. Gharbi</name><affiliation wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Sloan-Kettering Institute for Cancer Research, New York, New York 10021, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sloan-Kettering Institute for Cancer Research, New York, New York 10021</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut de Recherches sur les Maladies du Sang (INSERM U93), France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Recherches sur les Maladies du Sang (INSERM U93)</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Dematologie, Hopital Charles Nicolle, Tunis, Tunisia</mods:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Service de Dematologie, Hopital Charles Nicolle, Tunis</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
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