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 …

Severe infectious diseases of childhood as monogenic inborn errors of immunity

JL Casanova - Proceedings of the National Academy of …, 2015 - National Acad Sciences
This paper reviews the developments that have occurred in the field of human genetics of
infectious diseases from the second half of the 20th century onward. In particular, it stresses …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Mortality and morbidity in community-acquired sepsis in European pediatric intensive care units: a prospective cohort study from the European Childhood Life …

NP Boeddha, LJ Schlapbach, GJ Driessen, JA Herberg… - Critical care, 2018 - Springer
Background Sepsis is one of the main reasons for non-elective admission to pediatric
intensive care units (PICUs), but little is known about determinants influencing outcome. We …

Lessons learned from the clinical presentation of common variable immunodeficiency disorders: a systematic review and meta-analysis

LMA Janssen, M van der Flier, E de Vries - Frontiers in immunology, 2021 - frontiersin.org
Background Diagnostic delay in common variable immunodeficiency disorders (CVID) is
considerable. There is no generally accepted symptom-recognition framework for its early …

Naturally acquired human immunity to pneumococcus is dependent on antibody to protein antigens

R Wilson, JM Cohen, M Reglinski, RJ Jose… - PLoS …, 2017 - journals.plos.org
Naturally acquired immunity against invasive pneumococcal disease (IPD) is thought to be
dependent on anti-capsular antibody. However nasopharyngeal colonisation by …

The antibody-secreting cell response to infection: kinetics and clinical applications

MJ Carter, RM Mitchell, PM Meyer Sauteur… - Frontiers in …, 2017 - frontiersin.org
Despite the availability of advances in molecular diagnostic testing for infectious disease,
there is still a need for tools that advance clinical care and public health. Current methods …

Lessons learned from the study of human inborn errors of innate immunity

G Bucciol, L Moens, B Bosch, X Bossuyt… - Journal of Allergy and …, 2019 - Elsevier
Innate immunity contributes to host defense through all cell types and relies on their shared
germline genetic background, whereas adaptive immunity operates through only 3 main cell …

Invasive pneumococcal disease in children's hospitals: 2014–2017

SL Kaplan, WJ Barson, PL Lin, JR Romero… - …, 2019 - publications.aap.org
BACKGROUND: The 13-valent pneumococcal conjugate vaccine (PCV13) was licensed in
the United States in 2010. We describe invasive pneumococcal disease (IPD) in children at …

Clinical and genetic spectrum of a large cohort with total and sub-total complement deficiencies

C El Sissy, J Rosain, P Vieira-Martins… - Frontiers in …, 2019 - frontiersin.org
The complement system is crucial for defense against pathogens and the removal of dying
cells or immune complexes. Thus, clinical indications for possible complete complement …