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Review
. 2012 Feb:1250:25-32.
doi: 10.1111/j.1749-6632.2011.06387.x. Epub 2012 Jan 23.

Hyper-IgE syndrome update

Kathryn J Sowerwine  1 , Steven M Holland, Alexandra F Freeman
Affiliations
Review

Hyper-IgE syndrome update

Kathryn J Sowerwine et al. Ann N Y Acad Sci. 2012 Feb.

Abstract

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.

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Conflict of interest statement

Conflicts of interest: The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Chest CT showing pneumatoceles with aspergilloma (arrow) in a 40-year-old woman.
Figure 2
Figure 2
(A) Cervical spine disease in a 55-year-old woman. (B) Severe scoliosis is seen in >50% of AD-HIES individuals.
See this image and copyright information in PMC

References

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    1. Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357:1608–1619. - PubMed
    1. Minegishi Y, Saito M, Tsuchiya S, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448:1058–1062. - PubMed

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