| Literature DB >> 27873456 |
Nima Parvaneh1,2, Vincent Barlogis3, Abdolvahab Alborzi4,5, Caroline Deswarte6,7, Stéphanie Boisson-Dupuis6,7,8, Mélanie Migaud6,7, Catherine Farnaria9, Janet Markle8, Leila Parvaneh2, Jean-Laurent Casanova6,7,8,10,11, Jacinta Bustamante6,7,8,12.
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.Entities:
Keywords: BCG; IFN-γ; IL-12; candida; leishmania; primary immunodeficiency; salmonella
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Year: 2016 PMID： 27873456 DOI： 10.1002/pbc.26362
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN： 1545-5009 Impact factor: 3.167