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Generalized lymphadenopathy due to disseminated non-typhoidal Salmonella infection in a 3-year-old: Unmasking IL-12RB1-deficient MSMD-A rare case
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DOI：10.1016/j.ijmmb.2026.101085.png)
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Abstract
En 中文
IL-12 receptor (31 (IL-12R(31) deficiency is the most frequent genetic etiology of Mendelian Susceptibility to Mycobacterial Disease (MSMD), predisposing to severe infections with intracellular pathogens. We report a 3year-old male with prior BCG adenitis and multidrug-resistant extra-pulmonary tuberculosis who presented with persistent generalized lymphadenopathy. Excisional lymph node biopsy grew Salmonella enterica serovar Typhimurium. Genetic testing revealed a homozygous pathogenic mutation in the IL12RB1 gene. This case illustrates a rare presentation of disseminated non-typhoidal salmonellosis in IL-12R(31 deficiency and highlights the importance of early immunological evaluation in children with recurrent, severe, or atypical infections.
Keywords:
MSMD
Generalized lymphadenopathy
Non-typhoidal Salmonella
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