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. 2006 Apr;78(4):721-7.
doi: 10.1086/503269. Epub 2006 Feb 17.

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8

Celine Eidenschenk  1 , Jean Dunne, Emmanuelle Jouanguy, Claire Fourlinnie, Laure Gineau, Delphine Bacq, Corrina McMahon, Owen Smith, Jean-Laurent Casanova, Laurent Abel, Conleth Feighery
Affiliations

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8

Celine Eidenschenk et al. Am J Hum Genet. 2006 Apr.

Abstract

We describe four children with a novel primary immunodeficiency consisting of specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an Epstein-Barr virus-driven lymphoproliferative disorder; two others developed severe respiratory illnesses of probable viral etiology. The four patients are related and belong to a large inbred kindred of Irish nomadic descent, which suggests autosomal recessive inheritance of this defect. A genomewide scan identified a single 12-Mb region on chromosome 8p11.23-q11.21 that was linked to this immunodeficiency (maximum LOD score 4.51). The mapping of the disease-causing genomic region paves the way for the identification of a novel pathway governing NK cell differentiation in humans.

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Figures

Figure 1
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.
Figure 2
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.
See this image and copyright information in PMC

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