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IL-12 receptor deficiency
🧬 IL-12 Receptor Deficiency ➝ rare autosomal recessive immunodeficiency causing impaired TH1 response and defective clearance of intracellular infections.
ℹ️ About
- ⚠️ Rare autosomal recessive immunodeficiency affecting T cells.
- 🛡️ Impaired ability to fight intracellular pathogens due to defective IL-12 receptor signalling.
🧬 Aetiology
- ⬇️ Reduced TH1 differentiation ➝ IL-12 receptor is required for TH1 development.
- ❌ TH1 deficiency ➝ low interferon-gamma (IFN-γ), poor macrophage activation.
- ➡️ Leads to persistence of mycobacterial and fungal infections.
🩺 Clinical Features
- 🦠 Disseminated mycobacterial infections (including atypical mycobacteria & M. tuberculosis).
- 🍄 Severe fungal infections (recurrent, opportunistic).
- 💉 Complications after BCG vaccination ➝ risk of disseminated disease.
🔎 Differentials
- 🧬 Severe Combined Immunodeficiency (SCID).
- 🧪 Chronic Granulomatous Disease (CGD).
- Other primary immunodeficiencies with mycobacterial susceptibility (e.g., IFN-γ pathway defects).
🧪 Investigations
- 📉 Low IFN-γ levels after IL-12 stimulation (defining feature).
- 🧬 Genetic testing ➝ confirms IL-12 receptor gene mutation.
💊 Management
- 💊 Antibiotic & antifungal prophylaxis ➝ reduce severe infection risk.
- 🧪 Interferon-gamma therapy ➝ boosts host response to intracellular pathogens.
- 🚫 Avoid live vaccines (especially BCG).
- 🌱 Haematopoietic stem cell transplantation (HSCT) may be considered in severe/refractory cases.
📚 References
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