IL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey


BOISSON-DUPUIS S., EL BAGHDADI J., PARVANEH N., BOUSFIHA A., BUSTAMANTE J., FEINBERG J., et al.

PLOS ONE, cilt.6, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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.