The Monogenic Landscape of Human Infectious Diseases DOI
Stéphanie Boisson‐Dupuis, Paul Bastard, Vivien Béziat

et al.

Journal of Allergy and Clinical Immunology, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 1, 2024

Language: Английский

Human immunity DOI Creative Commons
Jean‐Laurent Casanova

Published: Feb. 26, 2025

Due to the burden of infectious diseases, human life expectancy at birth remained about 20–25 years until end 19th century, implying that host defense—which operates individual level, and only poorly that—is barely sufficient population level. Microbes preceded us by three billion evolve much more rapidly. Moreover, protective immunity has been selected evolutionary cost allergy, autoinflammation, autoimmunity. It is therefore no exaggeration predict almost all humans carry inborn errors immunity, with insufficient or excessive responses some environmental triggers, otherwise. Thanks remarkable power its concepts recent progress in methods, genetics finally made it possible investigate mechanisms molecular cellular levels. Human provide countless opportunities analyze derailments natural conditions, an unprecedented scale, are thus a unique asset from both biological medical perspectives. Hence, Journal Immunity.

Language: Английский

Citations

3

Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease DOI Creative Commons
Adrian Gervais, Paul Bastard, Lucy Bizien

et al.

The Journal of Experimental Medicine, Journal Year: 2024, Volume and Issue: 221(12)

Published: Nov. 1, 2024

Arboviral diseases are a growing global health concern. Pre-existing autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) can underlie encephalitis due to West Nile virus (WNV) (∼40% of patients) and tick-borne (TBE, TBE [TBEV]) (∼10%). We report here that these auto-Abs also severe forms rarer arboviral infections. Auto-Abs high concentrations IFN-α2, IFN-β, and/or IFN-ω present in the single case Powassan (POWV) studied, two three cases Usutu (USUV) infection most 24 Ross River (RRV) disease studied. These not found any 137 individuals with silent or mild infections viruses. Thus, IFNs an increasing list Flaviviridae (WNV, TBEV, POWV, USUV) Togaviridae viruses transmitted humans by mosquitos USUV, RRV) ticks (TBEV, POWV).

Language: Английский

Citations

6

Genetic defects of brain immunity in childhood herpes simplex encephalitis DOI
Shen‐Ying Zhang, Jean‐Laurent Casanova

Nature, Journal Year: 2024, Volume and Issue: 635(8039), P. 563 - 573

Published: Nov. 20, 2024

Language: Английский

Citations

6

Persistent Mycobacterium tuberculosis bioaerosol release in a tuberculosis-endemic setting. DOI Creative Commons
Ryan Dinkele, Sophia Gessner, Benjamin Patterson

et al.

iScience, Journal Year: 2024, Volume and Issue: 27(9), P. 110731 - 110731

Published: Aug. 23, 2024

Pioneering studies linking symptomatic disease and cough-mediated

Language: Английский

Citations

5

Spatially restricted immune and microbiota-driven adaptation of the gut DOI
Toufic Mayassi, Chenhao Li, Åsa Segerstolpe

et al.

Nature, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 20, 2024

Language: Английский

Citations

5

Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 DOI Creative Commons
Patrizia Malaspina,

Carla Jodice,

Bianca Maria Ciminelli

et al.

Human Genomics, Journal Year: 2025, Volume and Issue: 19(1)

Published: Jan. 30, 2025

Language: Английский

Citations

0

Human genetics of Whipple's disease DOI
Jérémie Rosain, Jean‐Laurent Casanova,

Jacinta Bustamante

et al.

Current Opinion in Rheumatology, Journal Year: 2025, Volume and Issue: unknown

Published: March 10, 2025

Whipple's disease (WD), triggered by Tropheryma whipplei ( T. ), is a rare, chronic, inflammatory, systemic infectious that typically manifests in adults. The most frequent initial manifestations include arthritis, followed diarrhea, abdominal pain, and weight loss. Half the world's population exposed to , but only one million develop WD. This suggests acquired or inborn errors of immunity (IEI) may underlie Anti-TNF treatment well established risk factor for flare-ups We have also reported two rare IEI patients with Six WD from unrelated kindreds were found autosomal dominant IRF4 deficiency acting via mechanism haploinsufficiency. These otherwise healthy. In addition, single patient history other infections was recessive CD4 deficiency. Rare can Human genetic studies are warranted development precision medicine affected improve our understanding pathogenesis this disease.

Language: Английский

Citations

0

Unraveling microbial pathogenesis through omics technologies for better therapeutic interventions DOI Creative Commons
Ankita Sharma,

Alka Rana,

B. Pavan Kumar

et al.

The Microbe, Journal Year: 2025, Volume and Issue: unknown, P. 100347 - 100347

Published: April 1, 2025

Language: Английский

Citations

0

Protective role of antibodies in enteric virus infections: Lessons from primary and secondary immune deficiencies DOI Creative Commons
Quentin Riller,

Muriel Schmutz,

Jacques Fourgeaud

et al.

Immunological Reviews, Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 28, 2024

Summary Enteric viruses are the main cause of acute gastroenteritis worldwide with a significant morbidity and mortality, especially among children aged adults. Some enteric also disseminated infections severe neurological manifestations such as poliomyelitis. Protective immunity against these is not well understood in humans, most knowledge coming from animal models, although development poliovirus rotavirus vaccines has extended our knowledge. In classical view, innate involves recognition foreign DNA or RNA by pathogen receptors leading to production interferons other inflammatory cytokines. Antigen uptake presentation T cells B then activate adaptive and, case mucosal immunity, induce secretion dimeric IgA, more potent immunoglobulins viral neutralization. The study Inborn errors (IEIs) offers natural opportunity nonredundant toward pathogens. viruses, patients defective antibodies at risk developing complications. Moreover, recent description low absent antibody protracted associated hepatitis reinforces prominent role control virus.

Language: Английский

Citations

2

The Monogenic Landscape of Human Infectious Diseases DOI
Stéphanie Boisson‐Dupuis, Paul Bastard, Vivien Béziat

et al.

Journal of Allergy and Clinical Immunology, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 1, 2024

Language: Английский

Citations

1