Support Tool Aims to Aid Diagnosis of Primary Immunodeficiency Disease

A new study published in Allergy presents a chart designed to assist the diagnosis of various skin manifestations that are prominent in children and adults with primary immunodeficiency diseases.

“Recognition of specific primary immunodeficiency disease-associated skin conditions in combination with other clinical features as described in the currently used warning signs could raise suspicion of an underlying primary immunodeficiency disease,” advised a research team from Erasmus MC University Medical Center, Rotterdam, the Netherlands.

A systematic overview of data from 67 studies that spanned a total 5030 patients revealed a broad spectrum of skin disorders in 30 different primary immunodeficiency diseases, researchers reported. However, most of the associations were reported in single studies with a low number of patients.

To help clinicians in practice settings, researchers summarized the data and created a support tool. The chart, printed with the study, clusters primary immunodeficiency diseases based on the presenting skin manifestations in an effort to aid in differential diagnosis and reduce diagnostic delay.

Although the team had also planned to systematically review the prevalence of Staphylococcus (S.) aureus-associated skin disorders and atopy in primary immunodeficiency diseases, studies on the topic were limited.

“Future research is needed to validate these data and support an association between specific cutaneous symptoms and primary immunodeficiency diseases,” researchers wrote. “Given the low number of articles reporting S. aureus-associated skin disorders and atopy in primary immunodeficiency diseases, more data have to be collected to further improve earlier recognition of primary immunodeficiency diseases.”

—Jolynn Tumolo

Reference:

de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: a systematic overview of current data. Allergy. 2019;74(3):464-482. doi: 10.1111/all.13681