Catalog

Autosomal dominant Stat1 deficiency

No MMS code

Link to WHO Definition

Autosomal dominant Stat1 deficiency – http://id.who.int/icd/entity/2037189455

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterised by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.