Immunology
X-linked MCTS1 deficiency causes susceptibility to mycobacterial infections
26.01.2026
Jonathan Bohlen and his team, in collaboration with the labs of Xiaochuan Wang and Jacinta Bustamante, decipher that X-linked recessive MCTS1 deficiency underlies Mendelian susceptibility to mycobacterial disease, including BCG disease. They report four patients from unrelated families carrying rare hemizygous MCTS1 variants, including three newly identified genotypes causing complete or partial loss of function.
Original Publication:
Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease
Zhou Q, Bagarić I, Komma F, Prakash C, Abolhassani H, Chavoshzadeh Z, Tsao L, Vatovec T, Soudée C, Rosain J, Minter D, Lu C, Al-Sukaiti N, Wu B, Sun J, Zhang Q, Casanova J, Pan-Hammarström Q, Chan A, Al-Farsi T, Wang X, Bustamante J, Bohlen J
Journal of Human Immunity, 2026. https://doi.org/10.70962/jhi.20250073