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J Res Med Sci. 2017 Apr 26;22:53. doi: 10.4103/jrms.JRMS_1050_16. eCollection 2017.

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.

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Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California, USA.
Isfahan Eye Research Center, Feiz Eye Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Isfahan Medical Students Research Center (IMSRC), Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Ophthalmology, Feiz Eye Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.


The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab) are hoped to be successful treatment in future.


Autoimmune disease; Staphylococcus aureus; eye; hyperimmunoglobulin E syndrome; immunodeficiency; ocular; omalizumab

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