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Published on: September 22, 2019
Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency
Abstract:
Interleukin (IL)-12 is composed of p35 and p40 subunits; in this case, IL-12p40 deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease. Salmonellosis has been reported in almost half of these patients and mostly present in recurrent extraintestinal form. In this report, we described an 18-month-old boy with absence of IL-12p40 production suffering from chronic disseminated nontyphoidal salmonellosis. To the best of our knowledge, this is the first-reported case.
Insights
Interleukin-12p40 deficiency, a rare genetic condition, can lead to severe salmonellosis. This report details the first case of chronic disseminated nontyphoidal salmonellosis in an 18-month-old boy with this deficiency.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Interleukin-12 (IL-12) is crucial for immune responses, comprising p35 and p40 subunits.
- IL-12p40 deficiency is a rare genetic cause of Mendelian susceptibility to mycobacterial disease.
- Patients with IL-12p40 deficiency often experience recurrent extraintestinal salmonellosis.
Observation:
- An 18-month-old boy presented with chronic disseminated nontyphoidal salmonellosis.
- The patient exhibited a complete absence of IL-12p40 production.
- This clinical presentation is consistent with severe immune dysregulation.
Findings:
- The case highlights a previously unreported manifestation of IL-12p40 deficiency.
- Chronic disseminated nontyphoidal salmonellosis was observed in the absence of IL-12p40.
- This suggests a critical role for IL-12p40 in controlling Salmonella infections.
Implications:
- This case expands the known clinical spectrum of IL-12p40 deficiency.
- Understanding this deficiency is vital for diagnosing and managing rare genetic immunodeficiencies.
- Further research into IL-12's role in Salmonella pathogenesis is warranted.
