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IL-12 receptor deficiency
๐งฌ IL-12 Receptor Deficiency โ rare autosomal recessive immunodeficiency causing impaired TH1 response and defective clearance of intracellular infections.
โน๏ธ About
- โ ๏ธ Rare autosomal recessive immunodeficiency affecting T cells.
- ๐ก๏ธ Impaired ability to fight intracellular pathogens due to defective IL-12 receptor signalling.
๐งฌ Aetiology
- โฌ๏ธ Reduced TH1 differentiation โ IL-12 receptor is required for TH1 development.
- โ TH1 deficiency โ low interferon-gamma (IFN-ฮณ), poor macrophage activation.
- โก๏ธ Leads to persistence of mycobacterial and fungal infections.
๐ฉบ Clinical Features
- ๐ฆ Disseminated mycobacterial infections (including atypical mycobacteria & M. tuberculosis).
- ๐ Severe fungal infections (recurrent, opportunistic).
- ๐ Complications after BCG vaccination โ risk of disseminated disease.
๐ Differentials
- ๐งฌ Severe Combined Immunodeficiency (SCID).
- ๐งช Chronic Granulomatous Disease (CGD).
- Other primary immunodeficiencies with mycobacterial susceptibility (e.g., IFN-ฮณ pathway defects).
๐งช Investigations
- ๐ Low IFN-ฮณ levels after IL-12 stimulation (defining feature).
- ๐งฌ Genetic testing โ confirms IL-12 receptor gene mutation.
๐ Management
- ๐ Antibiotic & antifungal prophylaxis โ reduce severe infection risk.
- ๐งช Interferon-gamma therapy โ boosts host response to intracellular pathogens.
- ๐ซ Avoid live vaccines (especially BCG).
- ๐ฑ Haematopoietic stem cell transplantation (HSCT) may be considered in severe/refractory cases.
๐ References
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