Literature DB >> 2985991

Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.

A Marcadet, D Cohen, J Dausset, A Fischer, A Durandy, C Griscelli.   

Abstract

We performed HLA genotyping by using restriction-enzyme fragments hybridized with specific HLA probes instead of traditional immunologic methods in two patients whose lymphocytes expressed so few HLA antigens on the cell surface that serologic methods failed. Segregation of restriction-fragment-length polymorphism permitted identification of the genotypes. In addition, known correlations between serologically determined antigens and restriction-fragment-length polymorphism were confirmed. We applied this approach in making therapeutic decisions regarding bone marrow transplantation.

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Year:  1985        PMID： 2985991     DOI： 10.1056/NEJM198505163122004

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


  11 in total

Review 1.  Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts.

Authors:  C M Kokron; F A Bonilla; H C Oettgen; N Ramesh; R S Geha; F Pandolfi
Journal:  J Clin Immunol       Date:  1997-03       Impact factor: 8.317

2.  Activation of genetically major histocompatibility complex (MHC) class II-deficient B lymphocytes.

Authors:  A Durandy; M Mangeney; C Griscelli; M Forveille; F Le Deist; A Fischer
Journal:  J Clin Immunol       Date:  1989-03       Impact factor: 8.317

3.  Phenotypical and functional analysis of B lymphocytes of two siblings with combined immunodeficiency and defective expression of major histocompatibility complex (MHC) class II antigens on mononuclear cells.

Authors:  G T Rijkers; J J Roord; F Koning; W Kuis; B J Zegers
Journal:  J Clin Immunol       Date:  1987-03       Impact factor: 8.317

Review 4.  DNA polymorphism and the study of disease associations.

Authors:  D N Cooper; J F Clayton
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

5.  Use of nonisotopic M13 probes for genetic analysis: application to HLA class II loci.

Authors:  E L Sheldon; D E Kellogg; R Watson; C H Levenson; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

6.  First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.

Authors:  E Mornet; J Boue; M Raux-Demay; P Couillin; J F Oury; Y Dumez; J Dausset; D Cohen; A Boué
Journal:  Hum Genet       Date:  1986-08       Impact factor: 4.132

Review 7.  Genotyping Applications for Transplantation and Transfusion Management: The Emory Experience.

Authors:  Ross M Fasano; Harold Cliff Sullivan; Robert A Bray; Howard M Gebel; Erin K Meyer; Annie M Winkler; Cassandra D Josephson; Sean R Stowell; Alexander Sandy Duncan; John D Roback
Journal:  Arch Pathol Lab Med       Date:  2017-03       Impact factor: 5.534

8.  HLA gene amplification and hybridization analysis of polymorphism. HLA matching for bone marrow transplantation of a patient with HLA-deficient severe combined immunodeficiency syndrome.

Authors:  L A Baxter-Lowe; J B Hunter; J T Casper; J Gorski
Journal:  J Clin Invest       Date:  1989-08       Impact factor: 14.808

9.  DNA typing of HLA-DR antigens in systemic lupus erythematosus.

Authors:  H Dunckley; P A Gatenby; S W Serjeantson
Journal:  Immunogenetics       Date:  1986       Impact factor: 2.846

10.  An isotype-specific trans-acting factor is defective in a mutant B cell line that expresses HLA-DQ, but not -DR or -DP.

Authors:  S J Ono; V Bazil; M Sugawara; J L Strominger
Journal:  J Exp Med       Date:  1991-03-01       Impact factor: 14.307
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