The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency. Most HIES cases occur sporadically, however two distinct form have been described: a classic HIES, which is inherited in an autosomal dominant pattern (AD-HIES), and an autosomal recessive HIES (AR-HIES).

Typical clinical triad of symptoms includes: recurrent staphylococcal skin abscesses, recurrent cyst-forming pneumonia and elevated level of serum immunoglobulin E (IgE), exceeding 2000 IU/ml. Individuals with HIES share a characteristic facial appearance: thick features, prominent forehead, broad nasal bridge and large interalar distance. Scoliosis and pathological bone fractures occur in more than 50 percent of patients. Retained primary dentition is common as well.

Skin, eye and respiratory system infections are most commonly caused by Staphylococci. Mucosal candidiasis as Candida albicans is the most frequent opportunistic infection. Systemic mycosis appears very rarely. Severe virus infections are more typical for the AR-HIES.

The onset of skin infections can be very early and may appear in infancy. Typical changes include: furuncle, cold abscess and connective tissue inflammation. Localization, frequent bactirial superinfection and distinctly more severe process are the factors which distinguish HIES eczema from atopic dermatitis.
Staphylococcal cyst-forming pneumonias are pathognomic for HIES. Pathogenesis of the lung cysts is unknown. Process may be moderate-to-severe.

The etiology of HIES is still unresolved. Previously research pointed toward the imbalance in Th1 and Th2 cell ratio and to the involvement of chemokines. Recent research shows that dominant-negative mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. The hyper-IgE syndrome is a multisystem disease with different symptoms expression. The early and certain diagnosis is quite impossible due to lack of simple and specific laboratory tests and clinical examinations.