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Start free with EleplanMendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
ORPHA:319558Disease
Also called MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
What it is
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies 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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