ORPHA:319600
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Also called MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:319600 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Fever
- Lymphadenopathy
- Abnormality of immune system physiology