Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rß1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
J Clin Immunol
; 38(7): 787-793, 2018 10.
Article
en En
| MEDLINE
| ID: mdl-30255293
ABSTRACT
PURPOSE:
Inborn errors of IFN-γ-mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased susceptibility to severe and recurrent infections caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines and environmental, nontuberculous mycobacteria (NTM).METHODS:
In this study, we investigated four patients from four unrelated consanguineous families from Isfahan, Iran, with disseminated BCG disease. We evaluated the patients' whole blood cell response to IL-12 and IFN-γ, IL-12Rß1 expression on T cell blasts, and sequenced candidate genes.RESULTS:
We report four patients from Isfahan, Iran, ranging from 3 months to 26 years old, with impaired IL-12 signaling. All patients suffered from BCG disease. One of them presented mycobacterial osteomyelitis. By Sanger sequencing, we identified three different types of homozygous mutations in IL12RB1. Expression of IL-12Rß1 was completely abolished in the four patients with IL12RB1 mutations.CONCLUSIONS:
IL-12Rß1 deficiency was found in the four MSMD Iranian families tested. It is the first report of an Iranian case with S321* mutant IL-12Rß1 protein. Mycobacterial osteomyelitis is another type of location of BCG infection in an IL-12Rß1-deficient patient, notified for the first time in this study.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Interleucina-12
/
Susceptibilidad a Enfermedades
/
Interleucina-23
/
Receptores de Interleucina-12
/
Infecciones por Mycobacterium
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Clin Immunol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Irán