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Genetic linkage of hyper-IgE syndrome to chromosome 4.

Publication ,  Journal Article
Grimbacher, B; Schäffer, AA; Holland, SM; Davis, J; Gallin, JI; Malech, HL; Atkinson, TP; Belohradsky, BH; Buckley, RH; Cossu, F; Español, T ...
Published in: Am J Hum Genet
September 1999

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

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

September 1999

Volume

65

Issue

3

Start / End Page

735 / 744

Location

United States

Related Subject Headings

  • Quantitative Trait, Heritable
  • Polymorphism, Genetic
  • Penetrance
  • Pedigree
  • Male
  • Lod Score
  • Job Syndrome
  • Humans
  • Genotype
  • Genetics & Heredity
 

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Grimbacher, B., Schäffer, A. A., Holland, S. M., Davis, J., Gallin, J. I., Malech, H. L., … Puck, J. M. (1999). Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet, 65(3), 735–744. https://doi.org/10.1086/302547
Grimbacher, B., A. A. Schäffer, S. M. Holland, J. Davis, J. I. Gallin, H. L. Malech, T. P. Atkinson, et al. “Genetic linkage of hyper-IgE syndrome to chromosome 4.Am J Hum Genet 65, no. 3 (September 1999): 735–44. https://doi.org/10.1086/302547.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999 Sep;65(3):735–44.
Grimbacher, B., et al. “Genetic linkage of hyper-IgE syndrome to chromosome 4.Am J Hum Genet, vol. 65, no. 3, Sept. 1999, pp. 735–44. Pubmed, doi:10.1086/302547.
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. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999 Sep;65(3):735–744.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

September 1999

Volume

65

Issue

3

Start / End Page

735 / 744

Location

United States

Related Subject Headings

  • Quantitative Trait, Heritable
  • Polymorphism, Genetic
  • Penetrance
  • Pedigree
  • Male
  • Lod Score
  • Job Syndrome
  • Humans
  • Genotype
  • Genetics & Heredity