A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 Céline Eidenschenk, Jean.

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Presentation transcript:

A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 Céline Eidenschenk, Jean Dunne, Emmanuelle Jouanguy, Claire Fourlinnie, Laure Gineau, Delphine Bacq, Corrina McMahon, Owen Smith, Jean-Laurent Casanova, Laurent Abel, Conleth Feighery The American Journal of Human Genetics Volume 78, Issue 4, Pages 721-727 (April 2006) DOI: 10.1086/503269 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the family. Individuals represented by a symbol with an asterisk (*) were available for genotyping (primary genome scan), whereas individuals represented by a symbol with a small circle were genotyped for only 8p12-q12.2 (fine mapping). The absolute NK cell count (measured in cells/mm3 of whole blood) and the percentage of lymphocytes that were NK cells in the first whole-blood sample analyzed are indicated for each individual tested. The American Journal of Human Genetics 2006 78, 721-727DOI: (10.1086/503269) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint linkage analysis of chromosome region 8p12-q12.2 by homozygosity mapping. Microsatellite positions are given in cM. A total of nine microsatellites were genotyped between D8S1821 and D8S1745. The American Journal of Human Genetics 2006 78, 721-727DOI: (10.1086/503269) Copyright © 2006 The American Society of Human Genetics Terms and Conditions