Hyper-Ig E syndrome in adult patient: a clinical case and a review of the literature

Abstract

Hyper-Ig E syndrome (HIES) includes a rare group of primary immunodeficiency conditions with frequently recurrent lung and skin infections. The respiratory system is affected by acute and chronic bronchitis, otitis, recurrent pneumonia, pneumocele, pleurisy, severe and prolonged sinusitis. Cutaneous manifestations are presented with “cold abscesses” and eczema/dermatitis. A pathognomic feature for the syndrome is the increased level of serum Ig E. The etiology of HIES still remains unclear. HIES occurs sporadically or is inherited - as an autosomal dominant HIES or autosomal recessive HIES. The type of inheritance determines the variable clinical picture of the syndrome. The pathogenetic diversity, the absence of specific clinical criteria as well as the presentation of few or minor symptoms in some patients complicate the diagnosis. We report а clinical case of a sporadic hyper-Ig E syndrome in an adult man suffering from atopic dermatitis since childhood presented with recurrent bacterial, viral, fungal and protozoan infections of the respiratory tract, gastrointestinal tract, skin and mucosal surfaces. A brief review of the scientific literature is also included.