What question did this study set out to answer?

To highlight a rare case of generalized lymphadenopathy due to Salmonella infection in a child with IL-12RB1 deficiency.

March 3, 2026Open Access

Generalized Lymphadenopathy due to Disseminated Non-Typhoidal Salmonella Infection in a 3–Year–old: Unmasking IL-12RB1-Deficient MSMD – A Rare Case Report.

Key Points

To highlight a rare case of generalized lymphadenopathy due to Salmonella infection in a child with IL-12RB1 deficiency.
Case report of a 3-year-old male
Genetic testing for IL12RB1 mutation
Excisional lymph node biopsy and culture to identify pathogen
Immunological evaluation for recurrent infections
Case presented with generalized lymphadenopathy
Salmonella enterica serovar Typhimurium identified from biopsy
Homozygous pathogenic mutation in IL12RB1 gene confirmed
Highlights the need for early diagnosis and immunological assessment in similar cases

Abstract

IL-12 receptor β1 (IL-12Rβ1) deficiency is the most frequent genetic etiology of Mendelian Susceptibility to Mycobacterial Disease (MSMD), predisposing to severe infections with intracellular pathogens. We report a 3-year-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-12Rβ1 deficiency and highlights the importance of early immunological evaluation in children with recurrent, severe, or atypical infections.

Generalized Lymphadenopathy due to Disseminated Non-Typhoidal Salmonella Infection in a 3–Year–old: Unmasking IL-12RB1-Deficient MSMD – A Rare Case Report.

Key Points

Abstract

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