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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P03-025 – Differential diagnosis of autoimmune disorders

Authors: A Kozlova, N Zinovieva, J Bustamante, S Boisson-Dupuis, J-L Casanova, A Shcherbina

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare form of primary immunodeficiencies characterized by predisposition for poorly virulent infection agents, primarily non-tuberculous mycobacteria and Salmonella. It has been shown that molecular basis of these diseases is mutations in at least 7 genes in the IL12-dependent IFN-g axis including IFNGR1, IFNGR2, IL-12/IL23RB1, IL-12B, IRF8, NEMO, CYBB and STAT1. There are about 140 patients with IL-12Rb1/IL-23Rb1 deficiency reported up to date, who manifest with various nonspecific inflammatory features due to chronic BCG infection and salmonellosis. …
Metadata
Title
P03-025 – Differential diagnosis of autoimmune disorders
Authors
A Kozlova
N Zinovieva
J Bustamante
S Boisson-Dupuis
J-L Casanova
A Shcherbina
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A223

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