Rare Zebra

Rare disease search prototype built on Orphanet data

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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