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Start free with EleplanAutosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
ORPHA:319535Category
Also called Autosomal recessive MSMD due to a complete deficiency
What it is
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Category
Genes reported in subtypes
Orphanet records these genes on 8 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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