Use of immunoglobulin therapy in a child with hyper IgE syndrome

Background: The hyper-IgE syndrome (HIES) is rare primary immunodeficiency. HIES autosomal dominant (AD-HIES) has been shown to be more frequent and mutation of STAT3 has been identified as a major genetic alteration which results in a connection skeletal tissue, vascular and dental abnormalities. Characterized by with recurrent staphylococcal skin abscesses, chronic eczema, recurrent pneumonia with pneumatoceles and high levels of IgE. Some laboratory findings are suggestive, such as serum IgE levels > 2000 IU / ml and eosinophilia. The use of prophylactic antibiotics is well recognized however the replacement of gamma globulin it is not a consensus.

Methods: Description of clinical case of a child with hyper IgE syndrome.

Results: A.C.L., female, 3 years old, was referred to the outpatient clinic for primary immunodeficiencies (PID), in Federal University of Uberlândia – MG, Brazil,  for investigation after of pneumonia with pleural effusion, complicated with bronchopleural fistula. The patient had a history of prematurity (36 weeks), low birth weight (2388g), chronic eczematous skin lesions and oral mucosal starting at 20 days of life. Moreover, had presented 8 episodes of pneumonia, several suppurative otitis (3-4 episodes per year) and frequent cutaneous abscesses. The patient had no history of vaccine reactions and consanguinity. The maternal history was similar, with chronic eczematous lesions and recurrent pneumonia. On physical examination, he called attention to increased inter-alar width, wide-set eyes, prominent forehead, high palate, tongue cracks, oral candidiasis, angular quielite, eczema on face, trunk, buttocks and scalp and hepatomegaly. Among the laboratory findings were IgE=10.000 UI/ml, IgA=54,7 UI/ml, IgG=1012 UI/ml, IgM=124 UI/ml, serum eosinophil= 700/mm3. Also showed satisfactory response to protein antigens (vaccine response against hepatitis B and rubella), but no response to polysaccharide antigens, despite having done conjugate and polysaccharide anti pneumococcal vaccines. The chest tomography showed images compatible with bronchiectasis and diffuse pulmonary fibrosis. With the use of prophylactic antibiotics (clotrimoxazol) had improvement of recurrent skin infections, but only after initiation of therapy with high-dose intravenous immunoglobulin evolved with significant reduction in sinopulmonary infections.

Conclusions: Clinical case is compatible with Hyper IgE Syndrome, probably autosomal dominant form. At diagnosis the patient already had important chronic lung disease. Nevertheless, starting treatment with prophylactic antibiotics and gamma globulin, developed with significant improvement in quality of life. Therefore, like other PID, patients with Hyper-IgE syndrome needs to be recognized early to prevent future damages and immunoglubulin therapy can be considered in cases with a poor response to polysaccharide antigens with recurrent sinopulmonary infections.