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Tier 3 — Observational / field trialPeer-reviewed

Human genetic and immunological determinants of critical COVID-19 pneumonia

Qian Zhang, Paul Bastard, COVID Human Genetic Effort, Adem Karbuz, Adrian Gervais, Ahmad Abou Tayoun, Alessandro Aiuti, Alexandre Bélot, Alexandre Bolze, Alexandre Gaudet, Анастасія Бондаренко, Zhiyong Liu, András N. Spaan, Andrea Guennoun, Andrés A. Arias, Anna M. Planas, Anna Šedivá, Anna Shcherbina, Anna‐Lena Neehus, Anne Puel, Antoine Froidure, Antonio Novelli, Aslınur Özkaya Parlakay, Aurora Pujol, Aysun Yahşi, Belgi̇n Gülhan, Benedetta Bigio, Bertrand Boisson, Beth A. Drolet, Carlos A. Arango-Franco, Carlos Flores, Carlos Rodríguez‐Gallego, Carolina Prando, Catherine M. Biggs, Charles‐Édouard Luyt, Clifton L. Dalgard, Cliona O’Farrelly, Daniela Matuozzo, David Dalmau, David S. Perlin, Davood Mansouri, Diederik van de Beek, Donald C. Vinh, Elena Domínguez‐Garrido, Elena W.Y. Hsieh, Emine Hafize Erdeniz, Emmanuelle Jouanguy, Esra Şevketoğlu, Estelle Talouarn, Eugenia Quirós-Roldán, Evangelos Andreakos, Eystein S. Husebye, Fahad Alsohime, Filomeen Haerynck, Giorgio Casari, Giuseppe Novelli, Gökhan Aytekіn, Guillaume Morelle, Gülsüm Alkan, Gülsüm İclal Bayhan, Hagit Baris Feldman, Helen C. Su, Horst von Bernuth, Igor Resnick, Ingrid G. Bustos, Isabelle Meyts, Isabelle Migeotte, Ivan Tancevski, Jacinta Bustamante, Jacques Fellay, Jamila El Baghdadi, Javier Martínez‐Picado, Jean‐Laurent Casanova, Jérémie Rosain, Jérémy Manry, Jie Chen, John Christodoulou, Jonathan Bohlen, José Luis Franco, Juan Li, Juan‐Manuel Anaya, Julián Rojas, YE Junqiang, K. M. Furkan Uddin, Kadriye Kart Yaşar, Kai Kisand, Keisuke Okamoto, Khalil Chaïbi, Kristina Mironska, László Maródi, Laurent Abel, Laurent Rénia, Lazaro Lorenzo, Lennart Hammarström, Lisa F. P. Ng, Lluís Quintana‐Murci, Lucía Victoria Erazo-Borrás, Luigi D. Notarangelo, Luis Felipe Reyes, Luís M. Allende

Nature · 2022

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Summary

This large international collaborative study, published in Nature in 2022, examined the human genetic and immunological determinants underlying critical COVID-19 pneumonia. By analysing patients with severe disease across multiple centres, the authors identified specific genetic polymorphisms and immune dysfunction patterns that confer heightened susceptibility to severe respiratory infection. The findings suggest that host genetic architecture and innate immune competence play significant roles in COVID-19 disease progression.

Regional applicability

These findings are relevant to UK clinical practice and public health in identifying high-risk individuals who might benefit from prioritised vaccination, monitoring, or therapeutic interventions. Understanding genetic predisposition to severe COVID-19 could inform stratified medicine approaches within NHS services.

Key measures

Genetic variants, immunological markers, COVID-19 pneumonia severity, hospitalisation outcomes

Outcomes reported

The study investigated human genetic and immunological factors associated with critical COVID-19 pneumonia severity. The research identified genetic variants and immune dysfunction patterns that predispose individuals to severe respiratory disease.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Observational cohort study with genetic and immunological analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41586-022-04447-0
Catalogue ID
SNmoj1xyla-9m78o3

Topic tags

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