{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:04:47Z","timestamp":1790975087016,"version":"4.1.0"},"reference-count":95,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,25]],"date-time":"2024-02-25T00:00:00Z","timestamp":1708819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathogens"],"abstract":"<jats:p>The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed in this population. Common clinical manifestations include Bacillus Calmette-Gu\u00e9rin vaccine (BCG) complications in countries where routine BCG vaccination is practiced, while in non-BCG-vaccinating countries, Non-Tuberculous Mycobacteria (NTM) is prevalent. In tuberculosis-endemic regions, Mycobacterium tuberculosis (MTB) has a high prevalence, along with other intracellular organisms. Isolating these organisms presents a significant challenge, and treatment is often initiated without confirming the specific species. This review primarily focuses on the methods and challenges associated with diagnosing and treating MSMD patients.<\/jats:p>","DOI":"10.3390\/pathogens13030203","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T06:50:23Z","timestamp":1708930223000},"page":"203","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease"],"prefix":"10.3390","volume":"13","author":[{"given":"Aparna","family":"Dalvi","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology, ICMR National Institute of Immunohaematology, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6785-8042","authenticated-orcid":false,"given":"Umair Ahmed","family":"Bargir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, ICMR National Institute of Immunohaematology, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gita","family":"Natraj","sequence":"additional","affiliation":[{"name":"Seth GS Medical College and KEM Hospital, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ira","family":"Shah","sequence":"additional","affiliation":[{"name":"Bai Jerbai Wadia Hospital for Children, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6380-3116","authenticated-orcid":false,"given":"Manisha","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, ICMR National Institute of Immunohaematology, Mumbai 400012, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1007\/s15010-009-9222-0","article-title":"Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12\/-23 receptor beta1 deficiency","volume":"38","author":"Ottenhoff","year":"2010","journal-title":"Infection"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1007\/s10875-022-01352-z","article-title":"The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity","volume":"42","author":"Bousfiha","year":"2022","journal-title":"J. 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