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Visceral Leishmaniasis in Two Patients With Il-12P40 and Il-12Rβ1 Deficiencies Publisher Pubmed



Parvaneh N1, 2 ; Barlogis V3 ; Alborzi A4, 5 ; Deswarte C6, 7 ; Boissondupuis S6, 7, 8 ; Migaud M6, 7 ; Farnaria C9 ; Markle J8 ; Parvaneh L2 ; Casanova JL6, 7, 8, 10, 11 ; Bustamante J6, 7, 8, 12
Authors
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Authors Affiliations
  1. 1. Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Children's Medical Center, Tehran, Iran
  3. 3. Pediatric Hematology-Oncology Unit, Timone Hospital for Children, Marseille, France
  4. 4. Professor Alborzi Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  5. 5. Department of Medical Parasitology and Mycology, Shiraz University of Medical Sciences, Shiraz, Iran
  6. 6. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, Paris, France
  7. 7. Imagine Institute, Paris Descartes University, Paris, France
  8. 8. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
  9. 9. Laboratory of Immunology, Conception Hospital, Marseille, France
  10. 10. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France
  11. 11. Howard Hughes Medical Institute, New York, NY, United States
  12. 12. Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hopitaux de Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France

Source: Pediatric Blood and Cancer Published:2017


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. © 2016 Wiley Periodicals, Inc.