Mendelian Susceptibility to Mycobacterial Diseases

**Semantic type:** Disease or Syndrome

**Definition:** A rare inherited disorder typically presenting in childhood characterized by a susceptibly to infection (local and disseminated), particularly from mycobacteria. This disorder has been associated with mutations in several genes including: IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8, ISG15, IKBKG, CYBB.

**Synonyms:** - MSMD - MSMD