Abstract

Background and ObjectivesReports on skin manifestations in inborn errors of immunity (IEI) are based on retrospective analysis, small series, or isolated case reports. The present prospective study aimed to determine the spectrum of skin manifestations in children with IEI and their relevance to specific molecular defects.Materials and MethodsThe data were obtained from the Kuwait National Primary Immunodeficiency Disorders Registry during the period of 2004–2020.ResultsA total of 313 pediatric cases of IEI, 71% diagnosed at molecular level, were registered with a cumulative follow-up period of 29,734 months. Skin manifestations were seen in 40.3% of the patients, and they were among the presenting manifestations in 33%. Patients with skin manifestations were older at both onset and diagnosis ages of IEI symptoms, but this was statistically significant for the latter only. The diagnosis delay was significantly longer in patients with skin manifestations. There was a statistically significant association between having skin manifestations and IEI category, being more common in patients with complement deficiencies, combined immunodeficiencies, and diseases of immune dysregulation. There was no statistically significant association between having skin manifestations and both gender and survival. Skin infections were the most frequent manifestations followed by eczema and autoimmune associations. Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency, hyper IgE syndrome, ataxia-telangiectasia, and recombination activation gene (RAG)1 deficiency.ConclusionsSkin manifestations are common in IEI patients, and they had significant diagnosis delay and referral to specialists. Improvement of awareness about IEI is needed among pediatricians and dermatologists.

Highlights

  • Around 6 million people worldwide are suggested to be suffering from inborn errors of immunity (IEI) (1)

  • Skin manifestations have been reported in 40%–70% of the patients with IEI, and they are among the presenting features in majority of them (3–8)

  • We had earlier published a prospective report on skin manifestations of primary immunodeficient children registered in the Kuwait National Primary Immunodeficiency Registry (KNPIDR) over a span of 6 years (6, 10)

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Summary

Introduction

Around 6 million people worldwide are suggested to be suffering from inborn errors of immunity (IEI) (1). Skin manifestations have been reported in 40%–70% of the patients with IEI, and they are among the presenting features in majority of them (3–8). There are only a few studies that have focused on the whole spectrum of cutaneous manifestations seen among IEI patients (4–8). Most data are restricted to cutaneous manifestations of one disorder, case series, or isolated case reports (9). We had earlier published a prospective report on skin manifestations of primary immunodeficient children registered in the Kuwait National Primary Immunodeficiency Registry (KNPIDR) over a span of 6 years (6, 10). Reports on skin manifestations in inborn errors of immunity (IEI) are based on retrospective analysis, small series, or isolated case reports. The present prospective study aimed to determine the spectrum of skin manifestations in children with IEI and their relevance to specific molecular defects

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