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

Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26362. Epub 2016 Nov 22.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / immunology
  • Genetic Diseases, Inborn* / pathology
  • Humans
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / immunology
  • Immunologic Deficiency Syndromes* / pathology
  • Interleukin-12 Subunit p40 / deficiency*
  • Leishmaniasis, Visceral* / genetics
  • Leishmaniasis, Visceral* / immunology
  • Leishmaniasis, Visceral* / pathology
  • Male
  • Receptors, Interleukin-12 / deficiency*

Substances

  • IL12B protein, human
  • IL12RB1 protein, human
  • Interleukin-12 Subunit p40
  • Receptors, Interleukin-12