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Job Syndrome (Hyper IgE syndrome)
🧬 Job Syndrome (Hyper IgE Syndrome) ➝ rare primary immunodeficiency with STAT3 mutation, defective Th17 cells, high IgE, and recurrent “cold” staphylococcal abscesses.
ℹ️ About
- 📌 Also called Hyper IgE syndrome.
- 🧬 Usually autosomal dominant ➝ affects T-cell signalling and neutrophil recruitment.
🧬 Aetiology
- 🔑 STAT3 mutation ➝ failure of Th17 differentiation.
- ⬇️ Impaired neutrophil recruitment ➝ poor clearance of bacterial & fungal infections.
- ⚠️ Especially prone to recurrent Staphylococcal abscesses.
🩺 Clinical Features
- 🙂 Coarse facial features ➝ broad nose, deep-set eyes, prominent forehead.
- 🦷 Retention of primary teeth ➝ delayed shedding of deciduous teeth.
- 🧊 Cold abscesses ➝ non-inflamed staph abscesses.
- 🌿 Eczema & chronic skin infections.
- 🦴 Recurrent fractures ➝ fragile bones with minor trauma.
- ❤️ Systemic features ➝ coronary aneurysms, CNS white matter changes on MRI (reported).
🔎 Differentials
- 🧪 Chronic Granulomatous Disease (CGD).
- 🧬 Wiskott-Aldrich Syndrome.
- Other combined immunodeficiencies.
🧪 Investigations
- 🩸 FBC ➝ eosinophilia.
- 📉 Low IFN-γ due to Th17 dysfunction.
- 🧪 Immunoglobulins ➝ markedly elevated IgE (hallmark).
- 🦴 X-rays ➝ fractures from minor trauma.
💊 Management
- 💊 Prophylactic antibiotics ➝ to prevent staph infections; antifungals sometimes added.
- 🌿 Eczema management ➝ emollients, topical steroids as required.
- 🔪 Abscess care ➝ incision & drainage.
- 💉 IVIG therapy ➝ considered in refractory cases (case-based evidence).
- 👥 Multidisciplinary care ➝ dermatology, infectious diseases, immunology.
📚 References
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