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Eczema affects 50.9% of patients with inborn errors of immunity with atopy, often beginning in infancy and preceding severe or unusual infections by years.
A baby develops eczema within the first few months of life. At first glance, it may appear to be typical atopic dermatitis (AD)—but in some children, persistent or unusual eczema can be the first visible sign of an underlying inborn error of immunity (IEI).
New findings from a French multicentre retrospective study show that eczema is common and often occurs early in patients with inborn errors of immunity with atopy (IEI-A). Importantly, its clinical pattern can differ from classic AD, offering potential clues for earlier diagnosis. This study aimed to characterize the frequency, timing, and clinical phenotypes of eczema in IEI-A and examine its relationship with infections, allergic manifestations, and autoimmunity.
Researchers reviewed clinical data from 373 patients with genetically defined IEI-A followed at three French National Referral Center for Primary Immunodeficiency Diseases (CEREDIH)-participating centres. Eczema characteristics, age at onset, infections, allergic manifestations, autoimmunity, and treatments were assessed.
Eczema frequency varied substantially across genetic subtypes. All patients with Dedicator of Cytokinesis 8 (DOCK8) deficiency had eczema, compared with 73% of patients with forkhead box P3 (FOXP3) deficiency and 75% of those with Signal Transducer and Activator of Transcription 3 (STAT3) loss of function. Clinical presentation also varied by genotype. Four distinct phenotypic clusters were identified, with severe pruritus and specific eczema localizations strongly associated with pathogenic STAT3 or DOCK8 variants.
The overlap with conventional AD was considerable. Among patients with IEI-A-associated eczema, 38.4% (73/190) fulfilled the UK Working Party diagnostic criteria for AD, illustrating the diagnostic challenge posed by clinically similar presentations. The timing of infection provided another important distinction. In children with isolated eczema at 24 months, the risk of subsequently developing IEI-related severe or unusual infections was lower than in those with persistent isolated eczema until approximately 6.8 years.
The findings highlighted eczema as a potential early clinical clue to IEI-A. Identifying unusually early disease, severe pruritus, characteristic localizations, or genotype-associated patterns could support earlier recognition of underlying immune defects and help guide appropriate evaluation as systemic treatments for pediatric AD continue to expand.
British Journal of Dermatology
Eczema in inborn errors of immunity with atopy: frequency, timing and phenotypic clustering
Hélène Aubert et al.
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