Eczema often appears years before infection in inborn errors of immunity

Design

Retrospective national reference-centre cohort with clustering analysis

Population

373 patients with genetically defined inborn errors of immunity with atopy, France

Primary outcome

Eczema frequency, timing and phenotype

Effect

Eczema in 50.9%; median onset 4 months; 38.4% met UK atopic dermatitis criteria

A retrospective study from the French national primary immunodeficiency reference centre examined 373 patients with genetically confirmed inborn errors of immunity with atopy, in which eczema can mimic atopic dermatitis.

Half (50.9%) had eczema, usually starting around four months of age. Every patient with DOCK8 deficiency was affected, as were about three-quarters of those with FOXP3 deficiency or STAT3 loss of function. Eczema often came years before the severe or unusual infections that usually prompt investigation. Only 38% of those with eczema met the UK Working Party criteria for atopic dermatitis, and four clinical clusters were identified, with severe itch and particular distributions linked to STAT3 and DOCK8 variants.

The practical point is earlier suspicion. As systemic treatments for atopic dermatitis move into younger children, an atypical eczema is worth questioning before a biologic or JAK inhibitor is started.

• Consider an inborn error of immunity in infants with severe eczema plus unusual infections, failure to thrive or very high IgE.
• Look for atypical features: eczema not meeting standard atopic dermatitis criteria, or unusual distribution.
• Ask about family history of immunodeficiency or early deaths from infection.
• Refer to paediatric immunology before starting systemic therapy when the picture is atypical.

Why it matters

Eczema can be the earliest visible sign of a serious immunodeficiency, years before the infections.

Don't overread it

A referral cohort of confirmed cases — it does not mean most severe eczema needs immunological work-up.

The statistics, in plain English

These are proportions from a referral-centre cohort of already-diagnosed patients, so they describe how eczema looks in these conditions, not how often a child with eczema has one — which is rare.

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