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-12Rβ1 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-12Rβ1 deficiencies, respectively. This finding demonstrates the importance of IFN-γ immunity in the control of leishmaniasis. We also searched the literature for similar reports in patients with these and other primary immunodeficiencies.
['Parvaneh|Nima|N|', 'Barlogis|Vincent|V|', 'Alborzi|Abdolvahab|A|', 'Deswarte|Caroline|C|', 'Boisson-Dupuis|Stéphanie|S|', 'Migaud|Mélanie|M|', 'Farnaria|Catherine|C|', 'Markle|Janet|J|', 'Parvaneh|Leila|L|', 'Casanova|Jean-Laurent|JL|', 'Bustamante|Jacinta|J|']
D000293:Adolescent D002648:Child D005260:Female D030342:Genetic Diseases, Inborn D006801:Humans D007153:Immunologic Deficiency Syndromes D053762:Interleukin-12 Subunit p40 D007898:Leishmaniasis, Visceral D008297:Male D053707:Receptors, Interleukin-12
IL-12 salmonella IFN-γ primary immunodeficiency BCG candida leishmania