Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.

ABSTRACT: X-linked recessive (XR) complete MCTS1 deficiency underlies Mendelian susceptibility to mycobacterial disease (MSMD) in patients with bacille Calmette-Guérin (BCG) disease. We investigated the genotypic and phenotypic landscape of four new unrelated families from four distinct countries. Three patients had adverse reactions to the BCG vaccine, whereas another patient was not vaccinated with BCG and had an infection with Mycobacterium abscessus at 16 years of age. Whole-exome sequencing of the probands revealed hemizygosity for rare germline MCTS1 variants. In addition to a previously reported loss-of-expression (LOE) and loss-of-function (LOF) variant, we identified three new MCTS1 variants. The p.L170* and E60Kfs5* variants are LOF, whereas p.W175* is hypomorphic when

SUBMITTER: Zhou Q 

PROVIDER: S-EPMC12857535 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature