A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8

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 probabl...

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Published inAmerican journal of human genetics Vol. 78; no. 4; pp. 721 - 727
Main Authors Eidenschenk, Céline, Dunne, Jean, Jouanguy, Emmanuelle, Fourlinnie, Claire, Gineau, Laure, Bacq, Delphine, McMahon, Corrina, Smith, Owen, Casanova, Jean-Laurent, Abel, Laurent, Feighery, Conleth
Format Journal Article
LanguageEnglish
Published Chicago, IL Elsevier Inc 01.04.2006
University of Chicago Press
Cell Press
The American Society of Human Genetics
Subjects
Biological and medical sciences
Cells
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 8
Female
General aspects. Genetic counseling
Genetic disorders
Humans
Immune system
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunologic Deficiency Syndromes - genetics
Immunologic Deficiency Syndromes - immunology
Immunopathology
Infections
Killer Cells, Natural - immunology
Male
Medical genetics
Medical sciences
Pedigree
Viruses
Genetic mapping
Natural killer cell
Human
Cartography
Deficiency
Chromosome 8
Genetics
Chromosome C8
Immune deficiency
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Summary: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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These two authors contributed equally to this work.
ISSN:0002-9297
1537-6605
DOI:10.1086/503269