3 years ago

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

M. Berneburg, K. Wirsching, M. Ettinger, J. Schreml, S. Schreml
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. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/bjd.15870

You might also like
Discover & Discuss Important Research

Keeping up-to-date with research can feel impossible, with papers being published faster than you'll ever be able to read them. That's where Researcher comes in: we're simplifying discovery and making important discussions happen. With over 19,000 sources, including peer-reviewed journals, preprints, blogs, universities, podcasts and Live events across 10 research areas, you'll never miss what's important to you. It's like social media, but better. Oh, and we should mention - it's free.

  • Download from Google Play
  • Download from App Store
  • Download from AppInChina

Researcher displays publicly available abstracts and doesn’t host any full article content. If the content is open access, we will direct clicks from the abstracts to the publisher website and display the PDF copy on our platform. Clicks to view the full text will be directed to the publisher website, where only users with subscriptions or access through their institution are able to view the full article.