Irish Child Health Database - Peer Reviewed Papers
Database Search
-
A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8
Published in:
Am J Hum Genet, Vol: 78, Page: 721-7
Publication Date:
April 2006
Aims & Objectives:
The aim of this study was to examine a novel primary immunodeficiency consisting of specific natural-killer cell deficiency and susceptibility to viral diseases
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.
Authors:
Study Type:
Study Papers » Case Study » Descriptive Studies - Without a comparision
Categories:
natural-killer (NK) cell deficiency
International Classification:
Other - natural-killer (NK) cell deficiency
Keywords:
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Female
- Humans
- Immunologic Deficiency Syndromes/ genetics/immunology
- Killer Cells, Natural/ immunology
- Male
- Pedigree
Geography:
Republic of Ireland (Ireland)