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Review
. 2025 Mar;155(3):740-751.
doi: 10.1016/j.jaci.2024.12.1075. Epub 2024 Dec 24.

Update on inborn errors of immunity

Hanna IJspeert  1 , Emily S J Edwards  2 , Robyn E O'Hehir  2 , Virgil A S H Dalm  3 , Menno C van Zelm  4
Affiliations
Free article
Review

Update on inborn errors of immunity

Hanna IJspeert et al. J Allergy Clin Immunol. 2025 Mar.
Free article

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.

Keywords: Inborn errors of immunity; JAK inhibitor; PI3K inhibitor; STAT6; V(D)J recombination; diagnosis; gene therapy; hematopoietic stem cell transplantation; newborn screening.

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Conflict of interest statement

Disclosure statement Supported by the Jeffrey Modell Foundation (JMF), JMF Center Melbourne (M.C.v.Z., E.S.J.E., R.E.O.H.), a JMF grant (H.IJ., V.A.S.H.D.), an Australian Medical Research Future Fund grant 2016108 (M.C.v.Z., R.E.O.H.), Pharming Technologies (H.IJ.), the Grifols ASPIRE Award (E.S.J.E.), and an Allergy and Immunology Foundation of Australasia Primary Immunodeficiency Clinical Research Grant (supported by CSL Behring Australia; E.S.J.E.). Disclosure of potential conflict of interest: H. IJspeert received funding from Pharming Technologies. The rest of the authors declare that they have no relevant conflicts of interest.

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