Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

Nima Parvaneh, Vincent Barlogis, Abdolvahab Alborzi, Caroline Deswarte, Stéphanie Boisson-Dupuis, Mélanie Migaud, Catherine Farnaria, Janet Markle, Leila Parvaneh, Jean Laurent Casanova, Jacinta Bustamante

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article numbere26362
JournalPediatric Blood and Cancer
Issue number6
StatePublished - Jun 2017
Externally publishedYes


  • BCG
  • IFN-γ
  • IL-12
  • candida
  • leishmania
  • primary immunodeficiency
  • salmonella

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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