Hyper-IgE Recurrent Infection Syndromes

Abstract

Abstract Hyper-IgE recurrent infection syndrome (MIM %147060, #243700) is a primary immunodeficiency characterized by recurrent staphylococcal skin abscesses, pneumonias with pneumatocele formation, extreme elevations of serum IgE, eosinophilia, and distinct abnormalities of the connective tissue, skeleton, and dentition (Davis et al., 1966; Buckley et al., 1972; Hill and Quie, 1974; Donabedian and Gallin, 1983a; Belohradsky et al., 1987; Grimbacher et al., 1999a; Erlewyn-Lajeunesse, 2000). History “So went Satan forth from the presence of the Lord, and smote Job with sore boils from the sole of his foot unto his crown.” With this citation from Job II:7, Davis, Schaller, and Wedgewood coined the term Job syndrome in 1966 (Davis et al., 1966). They reported two red-haired, fair-skinned girls who had frequent sinopulmonary infections, severe dermatitis, and recurrent staphylococcal skin infections that were remarkable for their lack of surrounding warmth, erythema, or tenderness. The syndrome was further defined and clarified by Buckley et al. (1972), who noted similar infectious problems in two boys with severe dermatitis, distinctive facial appearance, and elevated IgE levels, leading to the term Buckley syndrome. Following this report, elevated levels of IgE and a defect in neutrophil chemotaxis were reported in the two girls from the initial report (Hill and Quie, 1974), showing that Job syndrome and Buckley syndrome represented the same condition. To avoid further confusion, the name hyper-immunoglobulin E recurrent infection syndrome (HIES) is now widely used. In 1999 a group at the U.S. National Institutes of Health (NIH) undertook to define further the phenotype of HIES. The incidence of 19 clinical features associated with HIES was published, based on a cohort of 30 patients with the disease (Table 34.1) (Grimbacher et al., 1999a).