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Publications

Journal Article Review Ppublish

PubMed: 39724971 DOI: 10.1016/j.jaci.2024.12.1078

The monogenic landscape of human infectious diseases.

J Allergy Clin Immunol 155(3):768-783

Authors: Stéphanie Boisson-Dupuis, Paul Bastard, Vivien Béziat, Jacinta Bustamante, Aurélie Cobat, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen-Ying Zhang, Bertrand Boisson

Affiliations

  • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.
  • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France.

Abstract

The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.

MeSH

Hypersensitivity, Immunity, Communicable Diseases, Infections

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