CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
IL12RB1 deficiency in an infant with Disseminated Bacille Calmette-Guérin Disease
Provisionally accepted
- Jinhua Maternity and Child Health Care Hospital, Jinhua, China
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Disseminated Bacille Calmette-Guérin (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 β1 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-γ), the infection was successfully controlled. The patient continues to receive maintenance therapy with only interferon-gamma (IFN-γ). The study explores the optimal timing and target populations for BCG vaccination in high TB burden countries to minimize severe adverse effects.
Keywords: Bacille Calmette-Guérin (BCG) vaccine, disseminated BCG disease, IL12RB1 mutation, immunology, Mendelian susceptibility to mycobacterial disease
Received: 20 Oct 2025; Accepted: 15 Dec 2025.
Copyright: © 2025 Ma, Chen, Cheng and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xiao Ma
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