Recurrent Visceral Leishmaniasis in a Case With Interleukin-12 Receptor Beta-1 Deficiency

PurposeIn this study, we present the case of a children who was followed up for recurrent visceral leishmaniasis and diagnosed with IL-12R beta 1 deficiency.MethodsA female patient who received Bacille Calmette-Gu & eacute;rin (BCG) vaccine 2 months after birth and developed visceral leishmaniasis at the age of 91 months was subsequently diagnosed with IL-12R beta 1 deficiency. The patient's diagnosis and treatment process were examined retrospectively.ResultsIL-12R beta 1 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-gamma/IL-12 axis in our patient predisposed her to recurrent Leishmania infections.ConclusionThis 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-12R beta 1 defects.