{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhou Q"],"funding":["NCATS NIH HHS","NIAID NIH HHS"],"pagination":["e20250073"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12857535"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2(2)"],"pubmed_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 <i>Mycobacterium abscessus</i> at 16 years of age. Whole-exome sequencing of the probands revealed hemizygosity for rare germline <i>MCTS1</i> variants. In addition to a previously reported loss-of-expression (LOE) and loss-of-function (LOF) variant, we identified three new <i>MCTS1</i> variants. The p.L170* and E60Kfs5* variants are LOF, whereas p.W175* is hypomorphic when"],"journal":["Journal of human immunity"],"pubmed_title":["Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease."],"pmcid":["PMC12857535"],"funding_grant_id":["R01 AI095983","UL1 TR001866"],"pubmed_authors":["Tsao L","Soudee C","Rosain J","Minter DJ","Zhou Q","Chan AY","Prakash C","Al-Sukaiti N","Lu C","Wu B","Bagaric I","Casanova JL","Zhang Q","Chavoshzadeh Z","Al-Farsi T","Komma F","Abolhassani H","Vatovec T","Wang X","Pan-Hammarstrom Q","Sun J","Bustamante J","Bohlen J"],"additional_accession":[]},"is_claimable":false,"name":"Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.","description":"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 <i>Mycobacterium abscessus</i> at 16 years of age. Whole-exome sequencing of the probands revealed hemizygosity for rare germline <i>MCTS1</i> variants. In addition to a previously reported loss-of-expression (LOE) and loss-of-function (LOF) variant, we identified three new <i>MCTS1</i> variants. The p.L170* and E60Kfs5* variants are LOF, whereas p.W175* is hypomorphic when","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Mar","modification":"2026-07-15T17:26:03.796Z","creation":"2026-07-07T03:08:28.073Z"},"accession":"S-EPMC12857535","cross_references":{"pubmed":["41623352"],"doi":["10.70962/jhi.20250073"]}}