Genetic linkage of hyper-IgE syndrome to chromosome 4.
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.
Duke Scholars
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Related Subject Headings
- Quantitative Trait, Heritable
- Polymorphism, Genetic
- Penetrance
- Pedigree
- Male
- Lod Score
- Job Syndrome
- Humans
- Genotype
- Genetics & Heredity
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Quantitative Trait, Heritable
- Polymorphism, Genetic
- Penetrance
- Pedigree
- Male
- Lod Score
- Job Syndrome
- Humans
- Genotype
- Genetics & Heredity