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.
Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering.
Inborn errors of immunity with atopy (inborn errors of immunity with atopy) are an IEI subgroup with eczema as a prominent clinical feature that can mimic atopic dermatitis (atopic dermatitis).
To characterize eczema frequency, timing and phenotypes in inborn errors of immunity with atopy patients, and explore eczema's relationship with other clinical inborn errors of immunity with atopy manifestations.
This retrospective study used data from the French national IEI (CEREDIH) Registry database, focusing on patients with genetically defined inborn errors of immunity with atopy followed in three large CEREDIH-participating centers and available clinical data.
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).
Eczema frequency and clinical presentation varied markedly across inborn errors of immunity with atopy genotypes; four phenotypic clusters were identified, with particular localizations and severe pruritus being strongly associated with pathogenic STAT3 or DOCK8 variants.
Eczema is a common, early inborn errors of immunity with atopy feature, often preceding infections by years.
While 38.4% of inborn errors of immunity with atopy patients with eczema fulfilled the UK Working Party diagnostic criteria for atopic dermatitis, some clinical pictures may differ from that of classic atopic dermatitis.