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

Abstract

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.

Hyper IgE syndrome (Job syndrome) in Syria: a case report

“…Patients can have distinctive coarse facies features that become universal by 16 years of age, including asymmetrical faces, hemitrophy, prominent foreheads, broad nasal bridges, mild prognathism and deep-set eyes ( Fig. 2 ) [ 1 ]. Scoliosis can also occur in 63% of cases, and all patients have some degree of eczema.…”

“…Scoliosis can also occur in 63% of cases, and all patients have some degree of eczema. Prophylactic antibiotics against staphylococcus can be used such as TMP-SMX as reoccurrence is not uncommon [ 1 ]. However, as HIES was not diagnosed the patient did not take staphylococcus prophylaxis in previous visits.…”

“…Hyper IgE syndrome (HIES) is a rare hereditary primary immunodeficiency. It is characterized by a classical triad of high immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin abscesses from staphylococcus infections [ 1 ]. Patients also suffer from chronic candidiasis and have ophthalmic manifestations such as conjunctivitis, spontaneous corneal perforation and strabismus [ 1 ].…”

“…It is characterized by a classical triad of high immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin abscesses from staphylococcus infections [ 1 ]. Patients also suffer from chronic candidiasis and have ophthalmic manifestations such as conjunctivitis, spontaneous corneal perforation and strabismus [ 1 ]. While most cases of HIES are sporadic, some case can be familial with an autosomal dominant or recessive pattern [ 2 ].…”

Hyperimmunoglobulin E syndrome

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