Work

Update on inborn errors of immunity

Year: 2024

Type: review

Abstract: Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe coronavirus disease 2019 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly affect treatment outcomes, either through an earlier and more precise diagnosis or through implementation of novel, personalized treatment. The field is growing rapidly, so awareness, communication, and collaboration are key to improving treatment outcomes.

Source: Journal of Allergy and Clinical Immunology

DOI: 10.1016/j.jaci.2024.12.1075

Authors: Hanna IJspeert, Emily S.J. Edwards, Robyn E. O’Hehir, Virgil A.S.H. Dalm, Menno C. van Zelm

Institutions: Erasmus MC, The Alfred Hospital, Alfred Health, Monash University, Jeffrey Modell Foundation

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,000