o Mycobacterial Disease in Egyptian Children

Background: Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN axis and the phagocyte respiratory burst axis. Purpose: Screen patients with possible presentations for MSMD. Methods: Patients with disseminated BCG infection following vaccination, infections or recurrent tuberculosis inf Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005 mutations in the eight previously identified MSMD Results: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN- in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient. Conclusion: We report the first identified case particular a new IFNGR1 mutation underlying IFN need to be explored further. These findings have implications regarding the compulsory Bacillus