{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T05:11:04Z","timestamp":1778217064096,"version":"3.51.4"},"reference-count":185,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Mendelian susceptibility to mycobacterial disease (MSMD) is a rare inborn error of immunity characterized by heightened susceptibility to low-virulence non-tuberculous mycobacteria. Despite the widespread application of next-generation sequencing, the molecular etiology of approximately 50% of patients remains elusive. To date, 22 genes have been implicated, all converging on the IL-12\/23\u2013IFN-\u03b3 circuit, underscoring its non-redundant role in controlling intracellular pathogens. Isolated MSMD is characterized by a selective predisposition to one or more mycobacterial and related infections. But syndromic MSMD\u2019s clinical phenotypes are highly heterogeneous; apart from mycobacterial infections, patients may suffer from viral, bacterial, or fungal diseases, and can additionally manifest auto-inflammation, malignancy, or cutaneous involvement. Current MSMD management mainly hinges on prolonged antimicrobial therapy or align with recombinant human interferon-\u03b3 (rhIFN-\u03b3), although allogeneic hematopoietic stem cell transplantation (HSCT) remains the sole curative yet high-risk option; gene editing is still experimental. Priorities are early high-risk identification, targeted intervention and full-process management.<\/jats:p>","DOI":"10.3389\/fimmu.2026.1781297","type":"journal-article","created":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T04:46:09Z","timestamp":1778215569000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Mendelian susceptibility to mycobacterial disease: IFN-\u03b3-driven immunity collapse underlies heterogeneous infections"],"prefix":"10.3389","volume":"17","author":[{"given":"Mengqing","family":"Qian","sequence":"first","affiliation":[{"name":"Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Department of Infectious Diseases, Huashan Hospital, Fudan University","place":["Shanghai, 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