Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …
Mendelian susceptibility to mycobacterial disease: recent discoveries
J Bustamante - Human genetics, 2020 - Springer
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …
γ immunity. Affected patients are highly and selectively susceptible to weakly virulent …
Host susceptibility to non-tuberculous mycobacterial infections
UI Wu, SM Holland - The Lancet infectious diseases, 2015 - thelancet.com
Non-tuberculous mycobacteria cause a broad range of clinical disorders, from cutaneous
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …
infections, such as cervical or intrathoracic lymphadenitis in children, to disseminated …
Inherited human IFN-γ deficiency underlies mycobacterial disease
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
S Boisson‐Dupuis, J Bustamante… - Immunological …, 2015 - Wiley Online Library
Tuberculosis (TB), caused by Mycobacterium tuberculosis (M. tb) and a few related
mycobacteria, is a devastating disease, killing more than a million individuals per year …
mycobacteria, is a devastating disease, killing more than a million individuals per year …
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Severe viral respiratory infections in children with IFIH1 loss-of-function mutations
S Asgari, LJ Schlapbach, S Anchisi… - Proceedings of the …, 2017 - National Acad Sciences
Viral respiratory infections are usually mild and self-limiting; still they exceptionally result in
life-threatening infections in previously healthy children. To investigate a potential genetic …
life-threatening infections in previously healthy children. To investigate a potential genetic …
Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
C Gruber, D Bogunovic - Human genetics, 2020 - Springer
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …
that result in clinically apparent immune dysfunction. Although PIDs are classically …
[HTML][HTML] Mendelian susceptibility to mycobacterial diseases: state of the art
K Noma, Y Mizoguchi, M Tsumura, S Okada - Clinical Microbiology and …, 2022 - Elsevier
Background Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by
a selective predisposition to infections caused by intracellular pathogens, such as …
a selective predisposition to infections caused by intracellular pathogens, such as …
At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children
Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …
recognized, its utility for proactive pediatric screening is not well explored. Objective To …