Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
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 …

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 …

Inherited human IFN-γ deficiency underlies mycobacterial disease

G Kerner, J Rosain, A Guérin… - The Journal of …, 2020 - Am Soc Clin Investig
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective
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 …

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 …

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 …

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 …

[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 …

At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children

J Balciuniene, R Liu, L Bean, F Guo… - JAMA Network …, 2023 - jamanetwork.com
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 …