Clinical immunology Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency (original) (raw)

2012, Central European Journal of Immunology

We describe here a girl who was vaccinated at birth with BCG (Bacillus Calmette-Guérin) vaccine according to national immunization schedule in Poland. After the age of 2.5 m.o., she developed disseminated BCG infection. Primary immunodeficiencies (PID), such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), hyper IgM syndrome (HIGM), hyper IgE syndrome (HIES) were excluded. The diagnostic tests exploring IFN-γ/IL-12 axis were performed. The 818del4, the most common basis of IFNGR1 deficiency was found.