Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

Mutations of the IL12B and IL12RB1 genes underlie the development of IL-12 p40 and IL-12R beta 1 deficiencies, respectively, both of which cause predisposition to infection with weakly virulent mycobacteria and Salmonella. Infections with other intramacrophagic organisms have only been rarely observed. We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12R beta 1 deficiencies, respectively. This finding demonstrates the importance of IFN-gamma immunity in the control of leishmaniasis. We also searched the literature for similar reports in patients with these and other primary immunodeficiencies.