Visceral leishmaniasis in two patients with IL‐12p40 and IL‐12Rβ1 deficiencies. Issue 6 (22nd November 2016)

• Record Type: Journal Article
• Authors: Parvaneh, Nima; Barlogis, Vincent; Alborzi, Abdolvahab; Deswarte, Caroline; Boisson‐Dupuis, Stéphanie; Migaud, Mélanie; Farnaria, Catherine; Markle, Janet; Parvaneh, Leila; Casanova, Jean‐Laurent; Bustamante, Jacinta
• Is Part Of: Pediatric blood & cancer. Volume 64:Issue 6(2017)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2016-11-22
• Subjects: BCG -- IFN‐γ -- IL‐12 -- leishmania -- primary immunodeficiency -- salmonella -- candida; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.26362
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: 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.