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 …

Life‐threatening infectious diseases of childhood: single‐gene inborn errors of immunity?

A Alcaïs, L Quintana‐Murci, DS Thaler… - Annals of the New …, 2010 - Wiley Online Library
The hypothesis that inborn errors of immunity underlie infectious diseases is gaining
experimental support. However, the apparent modes of inheritance of predisposition or …

The genetic theory of infectious diseases: a brief history and selected illustrations

JL Casanova, L Abel - Annual review of genomics and human …, 2013 - annualreviews.org
Until the mid-nineteenth century, life expectancy at birth averaged 20 years worldwide,
owing mostly to childhood fevers. The germ theory of diseases then gradually overcame the …

Human genetics of infectious diseases: between proof of principle and paradigm

A Alcaïs, L Abel, JL Casanova - The Journal of clinical …, 2009 - Am Soc Clin Investig
The observation that only a fraction of individuals infected by infectious agents develop
clinical disease raises fundamental questions about the actual pathogenesis of infectious …

Human genetics of infectious diseases: a unified theory

JL Casanova, L Abel - The EMBO journal, 2007 - embopress.org
Since the early 1950s, the dominant paradigm in the human genetics of infectious diseases
postulates that rare monogenic immunodeficiencies confer vulnerability to multiple infectious …

Lethal infectious diseases as inborn errors of immunity: toward a synthesis of the germ and genetic theories

JL Casanova, L Abel - Annual Review of Pathology …, 2021 - annualreviews.org
It was first demonstrated in the late nineteenth century that human deaths from fever were
typically due to infections. As the germ theory gained ground, it replaced the old, unproven …

Human genetic basis of interindividual variability in the course of infection

JL Casanova - Proceedings of the National Academy of …, 2015 - National Acad Sciences
The key problem in human infectious diseases was posed at the turn of the 20th century:
their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life …

Human genetics of infectious diseases: Unique insights into immunological redundancy

JL Casanova, L Abel - Seminars in immunology, 2018 - Elsevier
For almost any given human-tropic virus, bacterium, fungus, or parasite, the clinical outcome
of primary infection is enormously variable, ranging from asymptomatic to lethal infection …

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

JL Casanova, L Abel - Human genetics, 2020 - Springer
Multicellular eukaryotes emerged late in evolution from an ocean of viruses, bacteria,
archaea, and unicellular eukaryotes. These macroorganisms are exposed to and infected by …

Mendelian traits that confer predisposition or resistance to specific infections in humans

C Picard, JL Casanova, L Abel - Current opinion in immunology, 2006 - Elsevier
Mutations in human genes involved in immunity are increasingly recognised. Most are
associated with conventional primary immunodeficiencies, which confer Mendelian …