@article{795e6f1ccc314f2f8a5853afd2aa4ea9,
title = "Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies",
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.",
keywords = "BCG, IFN-γ, IL-12, candida, leishmania, primary immunodeficiency, salmonella",
author = "Nima Parvaneh and Vincent Barlogis and Abdolvahab Alborzi and Caroline Deswarte and St{\'e}phanie Boisson-Dupuis and M{\'e}lanie Migaud and Catherine Farnaria and Janet Markle and Leila Parvaneh and Casanova, {Jean Laurent} and Jacinta Bustamante",
note = "Funding Information: This research was funded in part by the National Institute of Allergy and Infectious Diseases (grant numbers 5R01AI089970 and 5R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant number 8UL1TR000043), The Rockefeller University, the St. Giles Foundation, Institut National de la Sant{\'e} et de la Recherche M{\'e}dicale (INSERM), Paris Descartes University, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the “Investments for the future” program (grant number ANR-10-IAHU-01). LP is supported by a postdoctoral fellowship from the Iran's Ministry of Health and Medical Education (MOHME) and Iran's National Science Foundation (INSF). We wish to thank Yelena Nemirovskaya, and Lahouari Amar for administrative support. The authors have no competing financial interests to declare. Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2017",
month = jun,
doi = "10.1002/pbc.26362",
language = "English (US)",
volume = "64",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "6",
}