In the last decade, autosomal recessive IL-12Rβ1 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-12Rβ1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common.
Boisson-Dupuis, S., Baghdadi, J. E., Parvaneh, N., Bousfiha, A., Bustamante, J., Feinberg, J., … Casanova, J. L. (2011). Il-12rβ1 deficiency in two of fifty children with severe tuberculosis from IRN, MAR, and TUR. PLoS ONE, 6(4). https://doi.org/10.1371/journal.pone.0018524