Hyperimmunoglobulin E syndromes

Summary

Hyperimmunoglobulin E syndromes (HIES) are very rare, inherited conditions that affects both males and females, with symptoms usually beginning in childhood. Common features are severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE).

Currently two distinct HIES have been defined. These are autosomal dominant HIES, also known as Job’s syndrome and autosomal recessive HIES. The autosomal dominant HIES is caused by genetic changes (mutations) in the STAT3 gene and is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities that are not seen in the recessive type. Three different subgroups have been identified within the autosomal recessive form, distinguishable by different clinical symptoms. These are caused by mutations in the genes DOCK8 and TYK2, and as yet undefined genetic causes.

Treatment is centred on preventing and treating infections using antibiotic, antifungal and antiviral medicines. Good skin care and hygiene to prevent infection is essential. Moisturising creams and steroid creams are used to treat the severe eczema associated with these conditions.

Recent reports document success in treating both the autosomal dominant and the autosomal recessive DOCK8 form of HIES using bone marrow transplantation. With early diagnosis and treatment of infections, most patients with HIES go on to lead full lives.

This page was reviewed by the Medical Advisory Panel April 2013. Revised July 2015.


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