[source]
pmid = PMID:20149460
title = A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome
[diagnosis]
disease_id = OMIM:147060
disease_label = Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
[text]
A 12-year-old Greek girl was admitted because of fever, and cough for a week. Her parents were not consanguineous.
She had no remarkable perinatal problems and had been vaccinated as scheduled. She had a history of atopic dermatitis since 6 months of age.
Past medical history also revealed recurrent infections, including multiple episodes of skin abscesses and pneumonia.
She had a history of two hospitalizations for pneumonia with cyst formation in the right lung and numerous visits at the
clinic for the treatment of skin abscesses caused by Staphyloccocus aureus. Family history revealed no members with relevant allergic or immunologic diseases.
On physical examination, her height was 118 cm (under the 5th percentile), and her weight was 25.8 kg (under the 5th percentile).
She had coarse facial features with facial asymmetry, and prominent forehead. She was also diagnosed with scoliosis with maximal curvature of 14°.
Complete blood cell counts demonstrated a high total eosinophil count (max 4000 cells/μl).
The serum IgE level was increased at 74.000 IU/ml. All other laboratory data examined, such as serum immunoglobulin level,
the oxidative burst of granulocytes and complement components, were normal with the exception of slightly increased IgD titer (300 mg/l).
Lymphocyte subset analyses revealed normal levels of both CD4+ and CD8+ T cells (883 and 850 cells/μl, respectively).
