ORPHA:319552
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Also called MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:319552 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Abnormal circulating interleukin concentration
- Recurrent mycobacterial infections
- Immunodeficiency
- BCGosis
- Disseminated nontuberculous mycobacterial infection
- Recurrent candida infections