Food allergy in an exclusively breast-fed infant with Hyper-IgE syndrome.

Hyper-IgE syndrome (HIES), also called Job’s syndrome, [Online Mendelian Inheritance in Man (OMIM) #147060 and #243700] is a rare primary immunodeficiency disease, with an incidence lower than 1/10, not gender related, transmitted as an autosomal dominant or recessive trait with variable expressivity and of unknown etiology. HIES has been defined as a multisystem disease characterised by: 1) extremely high total serum Immunoglobulin E (IgE) levels; 2) recurrent bacterial infections — mainly respiratory and cutaneous; and 3) pneumonia with pneumatocele formation and other characteristics: eosinophilia, rough facial features (prominent forehead, broad nasal bridge and facial asymmetry), chronic eczematous dermatitis, retained primary teeth, recurrent pathological fractures from minor traumas, hyper-extensibility and scoliosis. HIES has been diagnosed by its clinical spectrum which is quite variable and in some patients, clinical signs start soon after birth. Although extremely high levels of total serum IgE (higher than 2,000 IU/ml) have been pointed out as a major characteristic of HIES, misdiagnosis during the first months of life is common due to the characteristics of the immune system at this age. To date there is no explanation for the high production of IgE and even with high levels of total IgE, the association between HIES and allergies is not common. HIES patients have recurrent infections mainly from Staphylococcus aureus presenting in the lungs, as hepatic abscesses, adenitis, cellulitis, and osteomyelitis. Infections by Candida albicans and other fungi have been increasingly reported. In some patients, the eczematoid cutaneous rash is extensive and spreads to the face similar to atopic dermatitis. In this study we report an exclusively breast-fed infant who presents features of HIES and developed atopic dermatitis due to food allergy.