Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN- γ R1) Defect: A Clinical Diagnostic and Treatment Challenge.
Netsanet Azene GebeyehuSolomie Jebessa DeribessaFreeman AlexandraMessay Tesfaye DemissieW Mihretu GebreAklilu Melaku GebremariamDagmawit Mitiku EnglizTizita Yosef KidaneLidya Million BekeleAbate Yeshidinber WeldetsadikPublished in: Case reports in infectious diseases (2022)
To the authors' knowledge, this is the first case report of Mendelian susceptibility to mycobacterial diseases secondary to interferon gamma receptor 1(IFNG-R1) defect in Ethiopia. Although it has been immensely challenging, our multidisciplinary team has learned a lot from the clinical presentation, diagnosis, and management of this child.