Atopic manifestations of inborn errors of immunity

Sams, Laura, Wijetilleka, Sonali, Ponsford, Mark, Gennery, Andrew and Jolles, Stephen 2023. Atopic manifestations of inborn errors of immunity. Current Opinion in Allergy and Clinical Immunology 23 (6) , pp. 478-490. 10.1097/ACI.0000000000000943

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Abstract

Purpose of review Allergy and atopic features are now well recognized manifestations of many inborn errors of immunity (IEI), and indeed may be the hallmark in some, such as DOCK8 deficiency. In this review, we describe the current IEI associated with atopy, using a comprehensive literature search and updates from the IUIS highlighting clinical clues for underlying IEI such as very early onset of atopic disease or treatment resistance to enable early and accurate genetic diagnosis. Recent findings We focus on recently described genes, their categories of pathogenic mechanisms and the expanding range of potential therapies. Summary We highlight in this review that patients with very early onset or treatment resistant atopic disorders should be investigated for an IEI, as targeted and effective therapies exist. Early and accurate genetic diagnosis is crucial in this cohort to reduce the burden of disease and mortality.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Lippincott, Williams & Wilkins
ISSN:	1528-4050
Funders:	N/A
Date of First Compliant Deposit:	6 November 2023
Last Modified:	31 May 2024 21:14
URI:	https://orca.cardiff.ac.uk/id/eprint/163077

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