Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.
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.
Mansouri
Davood
D
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
Adimi
Parisa
P
Mirsaeidi
Mehdi
M
Mansouri
Nahal
N
Khalilzadeh
Soheila
S
Masjedi
Mohammad R
MR
Adimi
Parvaneh
P
Tabarsi
Payam
P
Naderi
Mohammad
M
Filipe-Santos
Orchidée
O
Vogt
Guillaume
G
de Beaucoudrey
Ludovic
L
Bustamante
Jacinta
J
Chapgier
Ariane
A
Feinberg
Jacqueline
J
Velayati
Ali A
AA
Casanova
Jean-Laurent
JL
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
D001500:BCG Vaccine; D007371:Interferon-gamma; D018664:Interleukin-12; D053762:Interleukin-12 Subunit p40; D021122:Protein Subunits; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor