Synonyms
Introduction
Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)(OMIM#147060), also known as Job’s syndrome, is a primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eczema, infections, and multiple connective tissue, skeletal, and vascular abnormalities. First described in 1966 by Davis et al., it was initially characterized by the triad of eosinophilia, eczema, and recurrent skin and pulmonary infections (Davis et al. 1966). Shortly thereafter, in 1972, Buckley et al. recognized that an elevated IgE levels was a part of this clinical spectrum, giving rise to the name hyperimmunoglobulin E syndrome. Dominant-negative heterozygous mutations in signal transducer and activator of transcription 3 (STAT3) were identified in 2007 as the link between recurrent infections and connective tissue abnormalities (Holland et al. 2007; Minegishi et al. 2007). Many cases are sporadic, but when familial, all...
This is a preview of subscription content, log in via an institution to check access.
References
Abd-Elmoniem KZ, Ramos N, Yazdani SK, Ghanem AM, Holland SM, Freeman AF, et al. Coronary atherosclerosis and dilation in hyper IgE syndrome patients: depiction by magnetic resonance vessel wall imaging and pathological correlation. Atherosclerosis. 2017;258:20–5. https://doi.org/10.1016/j.atherosclerosis.2017.01.022.
Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, et al. Gastrointestinal manifestations of STAT3-deficient hyper IgE syndrome. J Clin Immunol. 2017;37(7):695–700. https://doi.org/10.1007/s10875-017-0429-z.
Davis SD, Schaller J, Wedgwood RJ. Job’s syndrome. Recurrent, “cold,” staphylococcal abscesses. Lancet. 1966;1(7445):1013–5.
Freeman AF, Olivier KN. Hyper IgE syndromes and the lung. Clin Chest Med. 2016;37(3):557–67. https://doi.org/10.1016/j.ccm.2016.4.016.
Goussetis E, Peristeri I, Kitra V, Traeger-Synodinos J, Theodosaki M, Osarra K, et al. Successful long-term immunologic reconstitution by allogenic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2010;126(2):392–4. https://doi.org/10.1016/j.jaci.2010.05.005.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper IgE syndrome. N Engl J Med. 2007;357(16):1608–19. https://doi.org/10.1056/NEJMoa073687.
Hox V, O’Connell MP, Lyons J, Sackstein P, Dimaggio T, Jones N, et al. Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis. J Allergy Clin Immunol. 2016;138(1):187–99. https://doi.org/10.1016/j.jaci.2015.11.024.
Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62. https://doi.org/10.1038/nature06096.
Siegel AM, Heimall J, Freeman AF, Hsu AP, Brittain E, Brenchley JM, et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity. 2011;35(5):806–18. https://doi.org/10.1016/j.immuni.2011.09.016.
Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Ann N Y Acad Sci. 2012;1250:25–32. https://doi.org/10.1111/j.1749-6632.2011.06387.x.
Yanagimachi M, Ohya T, Yokosuka T, Kajiwara R, Tanaka F, Goto H, et al. The potential and limits of hematopoietic stem cell transplantation for the treatment of autosomal dominant hyper-IgE syndrome. J Clin Immunol. 2016;36(5):511–6. https://doi.org/10.1007/s10875-016-0278-1.
Yong PF, Freeman AF, Engelhardt KR, Holland SM, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Res Ther. 2012;14(6):228. https://doi.org/10.1186/ar4069.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media, LLC, part of Springer Nature
About this entry
Cite this entry
Bergerson, J.R.E., Freeman, A.F. (2018). Autosomal Dominant Hyper IgE Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_168-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_168-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine