500 Mendelian Susceptibility to Mycobacterial Diseases (MSMD) with autosomal dominant Interferon Gama receptor one defect: A clinical diagnostic and treatment challenge for a 13 year old ethiopian girl

Abstract

A 13 year old female patient had multiple hospital visits since age of 6months. The most striking diagnosis was repeated mycobacterial infections; which were diagnosed at times clinically and at other times with bacteriological confirmation. She had tuberculosis affecting lymph nodes, skin and soft tissue, bone and joints, lungs and epidural and para-spinal regions. She has been treated 4 times with first line, ones with second line anti-Tb drugs and now she still taking anti-TB. She has taken all childhood vaccines, including BCG.