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Coronary Artery Abnormalities in Hyper-IgE Syndrome

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Abstract

Objective

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency caused by autosomal dominant STAT3 mutations resulting in recurrent infections and connective tissue abnormalities. Coronary artery abnormalities have been reported infrequently. We aimed to determine the frequency and characteristics of coronary artery abnormalities.

Design

STAT3-mutated HIES patients (n = 38), ranging in age from 8 to 57 years, underwent coronary artery imaging by computed tomography or magnetic resonance imaging. Images were evaluated for tortuosity, dilation, and aneurysm. Charts were reviewed for cardiac risk factors. To allow blinded image interpretation, an age- and gender-matched non-HIES group was also evaluated (n = 33).

Results

Coronary artery tortuosity or dilation occurred in 70% of HIES patients, with aneurysms present in 37%, incidences much higher than in the literature and in our non-HIES group, in which 21% had tortuosity or dilation and 3% had aneurysms. Hypertension was more common in the HIES group than in the general population and was associated with vessel abnormalities. Atherosclerosis was uncommon and mild.

Conclusions

Coronary artery aneurysms and tortuosity are common in HIES, despite a paucity of atherosclerosis, suggesting that STAT3 plays an integral role in human vascular remodeling and atherosclerosis.

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Acknowledgement

This research was supported by the Intramural Research Programs of the NIAID, NIDDK, and NIH, Bethesda, MD 20892. The views expressed in this article are those of the authors and do not reflect the official policy of the US government.

Elizabeth Mannino Avila was supported by the Clinical Research Training Program, a public–private partnership supported jointly by the NIH and Pfizer (via a grant to the Foundation for NIH from Pfizer).

Author information

Authors and Affiliations

  1. Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), NIH Building 10, Room 11N234, 10 Center Drive, Bethesda, MD, 20892–1899, USA

    Alexandra F. Freeman, Joie Davis, Amy P. Hsu & Steven M. Holland

  2. Clinical Research Training Program, National Institutes of Health (NIH)/Pfizer, Duke University School of Medicine, Durham, NC, USA

    Elizabeth Mannino Avila

  3. Biostatistics Research Branch, NIAID, NIH, Bethesda, MD, USA

    Pamela A. Shaw

  4. SAIC-Frederick, National Cancer Institute (NCI) at Frederick, Frederick, MD, USA

    Pamela Welch

  5. National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA

    Jatin R. Matta, Roderic I. Pettigrew & Ahmed M. Gharib

  6. Laboratory of Immunoregulation, NIAID, NIH, Bethesda, MD, USA

    Colleen Hadigan

Authors
  1. Alexandra F. Freeman
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  2. Elizabeth Mannino Avila
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Corresponding author

Correspondence to Alexandra F. Freeman.

Additional information

Alexandra F. Freeman and Elizabeth Mannino Avila contributed equally to this manuscript.

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Freeman, A.F., Avila, E.M., Shaw, P.A. et al. Coronary Artery Abnormalities in Hyper-IgE Syndrome. J Clin Immunol 31, 338–345 (2011). https://doi.org/10.1007/s10875-011-9515-9

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  • DOI: https://doi.org/10.1007/s10875-011-9515-9

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