Journal
PEDIATRIC BLOOD & CANCER
Volume 64, Issue 6, Pages -Publisher
WILEY
DOI: 10.1002/pbc.26362
Keywords
BCG; IFN-gamma; IL-12; leishmania; primary immunodeficiency; salmonella; candida
Categories
Funding
- National Institute of Allergy and Infectious Diseases [5R01AI089970, 5R37AI095983]
- National Center for Research Resources
- National Center for Advancing Sciences of the National Institutes of Health [8UL1TR000043]
- Rockefeller University
- St. Giles Foundation
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Paris Descartes University
- Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence [ANR-10-LABX-62-IBEID]
- French National Research Agency (ANR) under the Investments for the future program [ANR-10-IAHU-01]
- Iran's Ministry of Health and Medical Education (MOHME)
- Iran's National Science Foundation (INSF)
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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.
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