Genetic linkage of hyper-IgE syndrome to chromosome 4.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Grimbacher, B; Schäffer, AA; Holland, SM; Davis, J; Gallin, JI; Malech, HL; Atkinson, TP; Belohradsky, BH; Buckley, RH; Cossu, F; Español, T; Garty, BZ; Matamoros, N; Myers, LA; Nelson, RP; Ochs, HD; Renner, ED; Wellinghausen, N; Puck, JM

Published Date

  • September 1999

Published In

Volume / Issue

  • 65 / 3

Start / End Page

  • 735 - 744

PubMed ID

  • 10441580

Pubmed Central ID

  • 10441580

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/302547

Language

  • eng

Conference Location

  • United States