title: Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.
abstract: 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-gamma 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-gamma 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-gamma 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-12Rbeta1 deficiency. These three patients thus indicate that various inherited defects of the IL-12-IFN-gamma circuit can be found in Iranian people. In conclusion we recommend to consider the disorders of the IL-12-IFN-gamma 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.
authors.affiliation: Division of Infectious Diseases and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Darabad, Tehran, Iran. dmansouree@yahoo.com
authors.forename: Davood
authors.initials: D
authors.lastname: Mansouri
authors.forename: Parisa
authors.initials: P
authors.lastname: Adimi
authors.forename: Mehdi
authors.initials: M
authors.lastname: Mirsaeidi
authors.forename: Nahal
authors.initials: N
authors.lastname: Mansouri
authors.forename: Soheila
authors.initials: S
authors.lastname: Khalilzadeh
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Masjedi
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Adimi
authors.forename: Payam
authors.initials: P
authors.lastname: Tabarsi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Naderi
authors.forename: Orchidée
authors.initials: O
authors.lastname: Filipe-Santos
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vogt
authors.forename: Ludovic
authors.initials: L
authors.lastname: de Beaucoudrey
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Ali A
authors.initials: AA
authors.lastname: Velayati
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000328:Adult; D001500:BCG Vaccine / Q000009:adverse effects*; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D018664:Interleukin-12 / Q000235:genetics*; D053762:Interleukin-12 Subunit p40; D007492:Iran; D008297:Male; D009163:Mycobacterium bovis; D021122:Protein Subunits / Q000235:genetics; D017471:Receptors, Interferon / Q000235:genetics; D012480:Salmonella Infections / Q000235:genetics / Q000276:immunology; D014376:Tuberculosis / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D000096743:Interferon gamma Receptor
chemical_list: D001500:BCG Vaccine; D007371:Interferon-gamma; D018664:Interleukin-12; D053762:Interleukin-12 Subunit p40; D021122:Protein Subunits; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor