Genetic linkage of hyper-IgE syndrome to chromosome 4

Bodo Grimbacher, Alejandro A. Schäffer, Steven M. Holland, Joie Davis, John I. Gallin, Harry L. Malech, T. Prescott Atkinson, Bernd H. Belohradsky, Rebecca H. Buckley, Fausto Cossu, Teresa Español, Ben Zion Garty, Nuria Matamoros, Laurie A. Myers, Robert P. Nelson, Hans D. Ochs, Eleonore D. Renner, Nele Wellinghausen, Jennifer M. Puck

Research output: Contribution to journalArticle

262 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)735-744
Number of pages10
JournalAmerican Journal of Human Genetics
Volume65
Issue number3
DOIs
StatePublished - Jan 1 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Grimbacher, B., Schäffer, A. A., Holland, S. M., Davis, J., Gallin, J. I., Malech, H. L., Atkinson, T. P., Belohradsky, B. H., Buckley, R. H., Cossu, F., Español, T., Garty, B. Z., Matamoros, N., Myers, L. A., Nelson, R. P., Ochs, H. D., Renner, E. D., Wellinghausen, N., & Puck, J. M. (1999). Genetic linkage of hyper-IgE syndrome to chromosome 4. American Journal of Human Genetics, 65(3), 735-744. https://doi.org/10.1086/302547