Skin signs of primary immunodeficiencies – how to find the genes to check

Abstract

Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easy accessible organ, skin canbecrucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality.We provide a table, which enables the reader to find the possible diseases and according gene defects based on the skin manifestations of the suspectedPIDs. To our knowledge, this is the first review that allows finding relevant PIDs and the respective gene defects through solitary or combined skin signs.

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from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2vNOOPe