title: Genetic linkage of hyper-IgE syndrome to chromosome 4.
abstract: The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.
authors.affiliation: Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4442, USA.
authors.forename: B
authors.initials: B
authors.lastname: Grimbacher
authors.forename: A A
authors.initials: AA
authors.lastname: Schäffer
authors.forename: S M
authors.initials: SM
authors.lastname: Holland
authors.forename: J
authors.initials: J
authors.lastname: Davis
authors.forename: J I
authors.initials: JI
authors.lastname: Gallin
authors.forename: H L
authors.initials: HL
authors.lastname: Malech
authors.forename: T P
authors.initials: TP
authors.lastname: Atkinson
authors.forename: B H
authors.initials: BH
authors.lastname: Belohradsky
authors.forename: R H
authors.initials: RH
authors.lastname: Buckley
authors.forename: F
authors.initials: F
authors.lastname: Cossu
authors.forename: T
authors.initials: T
authors.lastname: Español
authors.forename: B Z
authors.initials: BZ
authors.lastname: Garty
authors.forename: N
authors.initials: N
authors.lastname: Matamoros
authors.forename: L A
authors.initials: LA
authors.lastname: Myers
authors.forename: R P
authors.initials: RP
authors.lastname: Nelson
authors.forename: H D
authors.initials: HD
authors.lastname: Ochs
authors.forename: E D
authors.initials: ED
authors.lastname: Renner
authors.forename: N
authors.initials: N
authors.lastname: Wellinghausen
authors.forename: J M
authors.initials: JM
authors.lastname: Puck
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007589:Job Syndrome / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D019683:Penetrance; D011110:Polymorphism, Genetic; D019655:Quantitative Trait, Heritable
chemical_list: D005819:Genetic Markers