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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Il-12rβ1 deficiency in two of fifty children with severe tuberculosis from IRN, MAR, and TUR
PLoS ONE, Volume 6, No. 4, Article e18524, Year 2011
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Description
Background and Objectives: In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from MAR, Spain, and TUR, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12Rβ1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common. Methods and Principal Findings: We searched for IL12RB1 mutations in a series of 50 children from IRN, MAR, and TUR. All children had established severe pulmonary and/or disseminated tuberculosis requiring hospitalization and were otherwise normally resistant to weakly virulent BCG vaccines and environmental mycobacteria. In one child from IRN and another from MAR, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12Rβ1 deficiency. Despite the small sample studied, our findings suggest that IL-12Rβ1 deficiency is not a very rare cause of pediatric tuberculosis in these countries, where it should be considered in selected children with severe disease. Significance: This finding may have important medical implications, as recombinant IFN-γ is an effective treatment for mycobacterial infections in IL-12Rβ1-deficient patients. It also provides additional support for the view that severe tuberculosis in childhood may result from a collection of single-gene inborn errors of immunity. © 2011 Boisson-Dupuis et al.
Authors & Co-Authors
Boisson-Dupuis, Stéphanie
United States, New York
Rockefeller University
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Baghdadi, Jamila El I.
Morocco, Agdal Rabat
Military Hospital Mohammed V
Parvaneh, Nima
Iran, Tehran
Tehran University of Medical Sciences
Bousfiha, Ahmed Aziz
Morocco, Casablanca
Hassan Ii University of Casablanca
Bustamante, Jacinta Cecilia
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Feinberg, Jacqueline
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Samarina, Arina
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Grant, Audrey Virginia
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Jannière, Lucile
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
El Hafidi, Naïma
Morocco, Agdal Rabat
Children Hospital
Hassani, Amal
Morocco, Agdal Rabat
Military Hospital Mohammed V
Nolan, Daniel
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Najib, Jillali
Morocco, Casablanca
Hassan Ii University of Casablanca
Camcioǧlu, Yildiz
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Hatipoǧlu, Nevin
Turkey, Istanbul
Bakirkoy Maternity and Children's Hospital
Aydogmus, Cigdem
Turkey, Istanbul
Bakirkoy Maternity and Children's Hospital
Tanír, Gön̈ul
Turkey, Ankara
Dr. Sami Ulus Children's Hospital
Aytekin, Caner
Turkey, Ankara
Dr. Sami Ulus Children's Hospital
Emiroǧlu, Melike Keser
Turkey, Istanbul
İstanbul Tıp Fakültesi
Somer, Ayper M.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Aksu, Guside
Turkey, Izmir
Ege University Medical School
Kütükçüler, Necil
Turkey, Izmir
Ege University Medical School
Mansouri, Davood
Iran, Tehran
National Research Institute of Tuberculosis and Lung Disease Tehran
Mahdaviani, Seyed Alireza
Iran, Tehran
Sbums Pediatric Respiratory Disease Research Center
Mamishi, Setareh
Iran, Tehran
Tehran University of Medical Sciences
Alcaïs, Alexandre
United States, New York
Rockefeller University
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Abel, Laurent
United States, New York
Rockefeller University
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Casanova, Jean Laurent
United States, New York
Rockefeller University
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 28
Authors: 28
Affiliations: 15
Identifiers
Doi:
10.1371/journal.pone.0018524
e-ISSN:
19326203
Research Areas
Genetics And Genomics
Maternal And Child Health