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    IL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey
    (Public Library Science, 2011) Boisson-Dupuis, Stephanie; El Baghdadi, Jamila; Parvaneh, Nima; Bousfiha, Aziz; Bustamante, Jacinta; Feinberg, Jacqueline; Samarina, Arina; Grant, Audrey V.; Janniere, Lucile; El Hafidi, Naima; Hassani, Amal; Nolan, Daniel; Najib, Jilali; Camcioglu, Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Tanir, Gonul; Aytekin, Caner; Keser, Melike; Somer, Ayper; Aksu, Guside; Kutukculer, Necil; Mansouri, Davood; Mahdaviani, Alireza; Mamishi, Setareh; Alcais, Alexandre; Abel, Laurent; Casanova, Jean-Laurent
    Background and Objectives: In the last decade, autosomal recessive IL-12R beta 11 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, 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-12R beta 1 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 Iran, Morocco, and Turkey. 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 Iran and another from Morocco, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12R beta 1 deficiency. Despite the small sample studied, our findings suggest that IL-12R beta 1 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-gamma is an effective treatment for mycobacterial infections in IL-12R beta 1-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.