Current opinion in allergy and clinical immunology · 2023
Atopic manifestations of inborn errors of immunity.
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Sams Laura, Wijetilleka Sonali, Ponsford Mark, Gennery Andrew, Jolles Stephen
Аннотация
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.
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.