| Literature DB >> 10441580 |
B Grimbacher1, A A Schäffer, S M Holland, J Davis, J I Gallin, H L Malech, T P Atkinson, B H Belohradsky, R H Buckley, F Cossu, T Español, B Z Garty, N Matamoros, L A Myers, R P Nelson, H D Ochs, E D Renner, N Wellinghausen, J M Puck.
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.Entities:
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Year: 1999 PMID： 10441580 PMCID： PMC1377980 DOI： 10.1086/302547
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025