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.
authors.affiliation: Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.|Research Center for Immunodeficiencies, Children's Medical Center, Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.affiliation: Pediatric Hematology-Oncology Unit, Timone Hospital for Children, Marseille, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Barlogis
authors.affiliation: Professor Alborzi Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.|Department of Medical Parasitology and Mycology, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Abdolvahab
authors.initials: A
authors.lastname: Alborzi
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.
authors.forename: Mélanie
authors.initials: M
authors.lastname: Migaud
authors.affiliation: Laboratory of Immunology, Conception Hospital, Marseille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Farnaria
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.
authors.forename: Janet
authors.initials: J
authors.lastname: Markle
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran, Iran.
authors.forename: Leila
authors.initials: L
authors.lastname: Parvaneh
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.|Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.|Howard Hughes Medical Institute, New York, New York.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.|Imagine Institute, Paris Descartes University, Paris, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.|Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000276:immunology / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology / Q000473:pathology; D053762:Interleukin-12 Subunit p40 / Q000172:deficiency*; D007898:Leishmaniasis, Visceral / Q000235:genetics / Q000276:immunology / Q000473:pathology; D008297:Male; D053707:Receptors, Interleukin-12 / Q000172:deficiency*
chemical_list: C500879:IL12B protein, human; C508438:IL12RB1 protein, human; D053762:Interleukin-12 Subunit p40; D053707:Receptors, Interleukin-12
keywords: BCG; IFN-γ; IL-12; candida; leishmania; primary immunodeficiency; salmonella