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Recurrent Visceral Leishmaniasis in a Case With Interleukin-12 Receptor Beta-1 Deficiency
Hatice Uygun1, Ayse Ceyda Oren2, Esra Pekpak Sahinoglu2
1Department of Pediatric Infectious Disease, Gaziantep University School of Medicine, Gaziantep, Turkey. ozhanhatice@hotmail.com.
Insights
Interleukin-12 receptor beta 1 (IL-12Rβ1) deficiency can cause recurrent visceral leishmaniasis (VL) in children. Immunological evaluation is crucial for patients with VL to identify potential IL-12Rβ1 defects.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Interleukin-12 receptor beta 1 (IL-12Rβ1) deficiency is a rare genetic disorder.
- It is characterized by susceptibility to infections, particularly from mycobacteria and Salmonella.
Observation:
- A pediatric patient with recurrent visceral leishmaniasis (VL) was diagnosed with IL-12Rβ1 deficiency.
- The patient developed VL at 91 months after BCG vaccination.
Findings:
- IL-12Rβ1 deficiency is linked to mutations in the IFN-γ/IL-12 pathway.
- This genetic defect predisposes individuals to recurrent Leishmania infections.
Implications:
- This case highlights IL-12Rβ1 deficiency as a potential cause of VL.
- Immunological assessment is recommended for VL patients to detect underlying immune defects.
Purpose:
In this study, we present the case of a children who was followed up for recurrent visceral leishmaniasis and diagnosed with IL-12Rβ1 deficiency.
Methods:
A female patient who received Bacille Calmette-Guérin (BCG) vaccine 2 months after birth and developed visceral leishmaniasis at the age of 91 months was subsequently diagnosed with IL-12Rβ1 deficiency. The patient's diagnosis and treatment process were examined retrospectively.
Results:
IL-12Rβ1 deficiency is an autosomal recessive disease characterized by susceptibility to recurrent and/or severe infections caused by weakly pathogenic mycobacteria and salmonella. Infections with other intramacrophagic organisms may also occur, although rarely. Based on this information, it is believed that the mutation in the IFN-γ/IL-12 axis in our patient predisposed her to recurrent Leishmania infections.
Conclusion:
This study adds to the limited literature on IL12RB1 deficiency as a cause of VL. Patients diagnosed with VL should be evaluated immunologically, as recurrent Leishmania infections may occur in those with IL-12Rβ1 defects.
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