Recurrent and unusual manifestations of tuberculosis in a boy with interleukin 12 receptor defect

Abstract

A genetically determined susceptibility to mycobacterial disease due to a specific immunological deficiency has been described. Although known as Mendelian susceptibility to mycobacterial disease (MSMD) this entity has both clinical and genetic heterogeneity. We describe a Sri Lankan boy with recurrent and rare manifestations of mycobacterial disease in whom a complete interleukin 12 receptor defect was identified.