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Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome
1From the School of Medicine, Medical College of Wisconsin.
Insights
A rare infant orbital cellulitis case revealed Hyper-IgE syndrome due to a novel STAT3 mutation. Prompt treatment and immune evaluation are crucial for such complex pediatric cases.
Area of Science:
- Pediatrics
- Immunology
- Ophthalmology
Background:
- Orbital cellulitis (OC) is uncommon in infants.
- Early diagnosis and intervention are critical for managing OC.
Purpose of the Study:
- To report a unique case of infantile orbital cellulitis.
- To highlight the association with Hyper-IgE syndrome and a novel STAT3 mutation.
Main Methods:
- Clinical case presentation of a 34-day-old female with periorbital swelling and proptosis.
- Diagnostic imaging (CT/MRI), surgical drainage, antibiotic therapy, and laboratory investigations including genetic testing.
- Identification of methicillin-sensitive Staphylococcus aureus and a novel STAT3 mutation.
Main Results:
- The patient presented with severe orbital cellulitis and ethmoid sinusitis.
- Treatment included urgent surgical drainage and broad-spectrum antibiotics.
- Postoperative findings of leukocytosis, eosinophilia, recurrent skin abscesses, and genetic identification of a novel STAT3 mutation confirmed Hyper-IgE syndrome.
Conclusions:
- Infantile orbital cellulitis requires prompt surgical and medical management.
- Atypical findings in pediatric orbital cellulitis warrant investigation for underlying immune dysregulation.
- This is the first reported case of infantile orbital cellulitis associated with Hyper-IgE syndrome and a novel STAT3 variant.
Abstract:
Orbital cellulitis (OC) is a rare diagnosis in infants, with limited numbers of cases reported in the literature to date. We report a 34‑day‑old female who presented with severe left-sided periorbital swelling and proptosis. Imaging confirmed a large orbital abscess with associated ethmoid sinusitis, and she underwent urgent exploration and drainage and initiation of broad‑spectrum intravenous antibiotics. Cultures grew methicillin‑sensitive Staphylococcus aureus. Postoperatively, she developed leukocytosis, eosinophilia, and recurrent skin abscesses, prompting immunologic evaluation. Genetic testing identified a novel STAT3 mutation in the SH2 domain consistent with Hyper‑IgE syndrome. This case highlights both the importance of prompt surgical and medical intervention in infantile orbital cellulitis and the need to consider underlying immune dysregulation when atypical clinical or laboratory findings are present. To our knowledge, this is the first reported case of infantile orbital cellulitis associated with Hyper-IgE syndrome, and the first report of this specific STAT3 variant causing hyper‑IgE syndrome.
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