A child diagnosed as IL12R defect with disseminated BCG infection

Abstract

IL12R defect is the most common genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It can be firstly diagnosed as BCGitis. Nine year old boy admitted with ulcerative lesion on second BCG vaccine site. He sometimes experienced arthritis, hepatosplenomegaly and neutropenia. The lymphocytes of the child has no response to IFNg in vitro, the patient diagnose as IL12R defect. The patients who have BCGitis should be evaluated for MSMD. © 2010 OMÜ Tüm Haklari Saklidir.