SELECTED ARTICLES FROM THE RECENT LITERATURE 2004

12/1/04

Autosomal recessive hyper IgE syndrome

Summary
Background - Autosomal dominant hyper immunoglobulin E syndrome (AD-HIES) is a very unusual congenital multi system disorder with immune, skeletal, and dental abnormalities. There are variants of AD-HIES about which little is known.

Findings - Renner et al of the University Children's Hospital in Munich described an autosomal recessive variant of HIES (AR-HIES) present in 13 HIV- negative patients from 6 consanguineous families. Manifestations were: 1) recurrent staph infections of the skin and respiratory tract; 2) eczema; 3)markedly increased serum IgE; 4) hyper eosinophilia. Recurrent infections - mollusam contagiosum, herpes infections (zoster, simplex), were common but the skeletal/dental abnormalities seen in AD-HIES were not seen in these AR-HIES patients. However, serious central nervous manifestations (hemiplegia, ischemic infarction, subarachnoid hemorrhage) did not occur commonly. Although the lymphocyte profile in the CDC was grossly normal in AR-HIES, these lymphocytes proliferated poorly in vitro when cultured with mitogens.

Reference
J Pediatr 2004;144:93-9

Editor's Comments
These findings do suggest that AR-HIES may be a distinct disorder even less common then AD-HIES. Whether the markedly increased plasma levels of IgE and the hyper eosinophilia is causally related to the sometimes striking increase in infections with staph aureus, some fungi and viruses are not well defined. Some individuals with AD-HIES have markedly elevated levels of IgE anti-staph antibodies but the pathogenic significance of this is unknown.

Unfortunately, there is no definitive curative therapy of these HIES syndromes.

 

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