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Cohort studyThe British journal of dermatology · 2026

Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering.

Hélène Aubert, Nizar Mahlaoui, Sébastien Barbarot … Caroline Thomas

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Allergy & ImmunologyCohort study

Over half of patients with inborn errors of immunity with atopy have eczema.

Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering.

Hélène Aubert et al. · The British journal of dermatology · 2026

Background

Inborn errors of immunity with atopy (IEIs-A) are an IEI subgroup with eczema as a prominent clinical feature that can mimic atopic dermatitis (AD).

Purpose

To characterize eczema frequency, timing and phenotypes in IEIs-A patients, and explore eczema's relationship with other clinical IEIs-A manifestations.

Methods

This retrospective study used data from the French national IEI (CEREDIH) Registry database, focusing on patients with genetically defined IEIs-A followed in three large CEREDIH-participating centers and available clinical data.

n = 373 IEIs-A patients

50.9%

Results

over half of patients with inherited immune system problems and allergies had eczema

n = 373 IEIs-A patients

More results

All dedicator of cytokinesis-8 (DOCK8)-deficient patients were affected, followed by Forkhead box-P3 (FOXP3)-deficient patients (73.3%), and those with signal transducer and activator of transcription-1-loss-of-function (STAT3-LoF; 74.6%).

Onset was usually early (median: 4 months).

More results

Eczema frequency and clinical presentation varied markedly across IEIs-A genotypes; four phenotypic clusters were identified, with particular localizations and severe pruritus being strongly associated with pathogenic STAT3 or DOCK8 variants.

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Conclusion

Eczema is a common, early IEIs-A feature, often preceding infections by years. While 38.4% of IEIs-A patients with eczema fulfilled the UK Working Party diagnostic criteria for AD, some clinical pictures may differ from that of classic AD.

Post

Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering.

Over half of patients with inborn errors of immunity with atopy have eczema.

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