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Article

Case report: IL12RB1 deficiency in an infant with disseminated Bacille Calmette-Guérin disease.

Frontiers in immunology - 1 Jan 2025

Ma Xiao, Chen Juping, Cheng Junqiao, Wang Jingbo

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41668770
DOI: 10.3389/fimmu.2025.1728612
PMCID: PMC12884637

Genes

IL12RB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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