Autosomal dominant STAT1 deficiency is most prevalent in Japanese patients with Mendelian susceptibility to mycobacterial disease (IMAGE)

Tokyo Medical and Dental University

Autosomal dominant STAT1 deficiency is most prevalent in Japanese patients with Mendelian susceptibility to mycobacterial disease

Caption

Patients with Mendelian susceptibility to mycobacterial disease (MSMD) are susceptible to atypical mycobacteria such as BCG, other environmental mycobacteria, and Salmonella. Here we identified 8 patients from 4 families with MSMD due to STAT1 variants, including 3 novel ones in Japan. When we see BCG-associated morbidity, we should suspect MSMD.

Credit

Department of Child Health and Development, TMDU

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