{"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":1790975087231,"version":"4.1.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:00:00Z","timestamp":1769385600000},"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>Disseminated Bacille Calmette-Gu\u00e9rin (BCG) disease is a rare adverse reaction to BCG vaccination. We report a neonate presenting with a progressive left axillary mass 3 months post-vaccination. High-throughput sequencing confirmed Mycobacterium bovis (BCG strain) infection. Genetic testing confirmed inborn errors of immunity (IEI) caused by interleukin (IL) 12 receptor \u03b21 deficiency. An expert panel diagnosed BCG disease (acute hematogenous disseminated BCG disease and axillary lymph node involvement) due to the immunodeficiency. After about 28 months of anti-BCG combination therapy with interferon-gamma (IFN-\u03b3), the infection was successfully controlled. The patient continues to receive maintenance therapy with only interferon-gamma (IFN-\u03b3). The study explores the optimal timing and target populations for BCG vaccination in high TB burden countries to minimize severe adverse effects.<\/jats:p>","DOI":"10.3389\/fimmu.2025.1728612","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T14:28:11Z","timestamp":1769437691000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: IL12RB1 deficiency in an infant with disseminated Bacille Calmette-Gu\u00e9rin disease"],"prefix":"10.3389","volume":"16","author":[{"given":"Xiao","family":"Ma","sequence":"first","affiliation":[{"name":"Preventive Care Department, Jinhua Maternity and Child Health Care Hospital","place":["Jinhua, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juping","family":"Chen","sequence":"additional","affiliation":[{"name":"Jinhua Maternity and Child Health Care Hospital","place":["Jinhua, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqiao","family":"Cheng","sequence":"additional","affiliation":[{"name":"Preventive Care Department, Jinhua Maternity and Child Health Care Hospital","place":["Jinhua, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingbo","family":"Wang","sequence":"additional","affiliation":[{"name":"Preventive Care Department, Jinhua Maternity and Child Health Care Hospital","place":["Jinhua, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,26]]},"reference":[{"key":"B1","volume-title":"Global tuberculosis report 2024","year":"2024"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1177\/003591573102401109","article-title":"Preventive vaccination against tuberculosis with BCG","volume":"24","author":"Calmette","year":"1931","journal-title":"Proc R Soc Med"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1086\/513642","article-title":"Disseminated bacille Calmette-Gu\u00e9rin disease after vaccination: case report and review","volume":"24","author":"Talbot","year":"1997","journal-title":"Clin Infect Dis"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-008-9253-9","article-title":"Chinese patients with defective IL-12\/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele","volume":"29","author":"Lee","year":"2008","journal-title":"J Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2014.09.008","article-title":"Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity","volume":"26","author":"Bustamante","year":"2014","journal-title":"Semin Immunol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2024.01.021","article-title":"Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review","volume":"153","author":"Khavandegar","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e85872","DOI":"10.7759\/cureus.85872","article-title":"Overview of mendelian susceptibility to mycobacterial diseases (MSMD)","volume":"17","author":"Raghuraman","year":"2025","journal-title":"Cureus"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.vaccine.2018.03.009","article-title":"BCG vaccine: WHO position paper, February 2018 - 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