Boisson-Dupuis Stéphanie, Bastard Paul, Béziat Vivien, Bustamante Jacinta, Cobat Aurélie, Jouanguy Emmanuelle, Puel Anne, Rosain Jérémie, Zhang Qian, Zhang Shen-Ying, Boisson Bertrand
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.
J Allergy Clin Immunol. 2025 Mar;155(3):768-783. doi: 10.1016/j.jaci.2024.12.1078. Epub 2024 Dec 24.
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.
已知的单基因遗传性免疫缺陷病的范围正在不断扩大，某些疾病是特定且范围狭窄的传染病的潜在病因。这些疾病揭示了这些感染在各种情况下发生的核心机制，包括遗传性和获得性免疫缺陷，从而阐明了针对相应病原体的保护性免疫的基本机制。这些发现也具有医学意义，有助于诊断并改善对疾病高危个体的管理。
