Inherited disorders of the IL-12-IFN-[gamma] axis in patients with disseminated BCG infection

• Published in: European journal of pediatrics Vol. 164; no. 12; p. 753
• Main Authors: Mansouri, Davood, Adimi, Parisa, Mirsaeidi, Mehdi, Mansouri, Nahal, Khalilzadeh, Soheila, Masjedi, Mohammad R, Adimi, Parvaneh, Tabarsi, Payam, Naderi, Mohammad, Filipe-Santos, Orchidée, Vogt, Guillaume, de Beaucoudrey, Ludovic, Bustamante, Jacinta, Chapgier, Ariane
• Format: Journal Article
• Language: English
• Published: Berlin Springer Nature B.V 01.12.2005
• DOI: 10.1007/s00431-005-1689-9
• ISSN: 0340-6199

Disseminated BCG infection is a rare complication of vaccination that occurs in patients with impaired immunity. In recent years, a series of inherited disorders of the IL-12-IFN-γ axis have been described that predispose affected individuals to disseminated disease caused by BCG, environmental Mycobacteria, and non-typhoidal Salmonella. The routine immunological work-up of these patients is normal and the diagnosis requires specific investigation of the IL-12-IFN-γ circuit. We report here the first two such patients originating from and living in Iran. The first child is two years old and suffers from complete IFN-γ receptor 2 deficiency and disseminated BCG infection. He is currently in clinical remission thanks to prolonged multiple antibiotic therapy. The other, a 28-year-old adult, suffers from IL-12p40 deficiency and presented with disseminated BCG infection followed by recurrent episodes of systemic salmonellosis. He is now doing well. A third patient of Iranian descent, living in North America, was reported elsewhere to suffer from IL-12Rβ1 deficiency. These three patients thus indicate that various inherited defects of the IL-12-IFN-γ circuit can be found in Iranian people. In conclusion we recommend to consider the disorders of the IL-12-IFN-γ circuit in all patients with severe BCG infection, disseminated environmental mycobacterial disease, or systemic non-typhoidal salmonellosis, regardless of their ethnic origin and country of residence. [PUBLICATION ABSTRACT]