1. A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.
- Author
-
Eidenschenk C, Dunne J, Jouanguy E, Fourlinnie C, Gineau L, Bacq D, McMahon C, Smith O, Casanova JL, Abel L, and Feighery C
- Subjects
- Chromosome Mapping, Female, Humans, Immunologic Deficiency Syndromes immunology, Male, Pedigree, Chromosomes, Human, Pair 8, Immunologic Deficiency Syndromes genetics, Killer Cells, Natural immunology
- 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.
- Published
- 2006
- Full Text
- View/download PDF