Ettinger, M. and Schreml, J. and Wirsching, K. and Berneburg, M. and Schreml, S. (2018) Skin signs of primary immunodeficiencies: how to find the genes to check. BRITISH JOURNAL OF DERMATOLOGY, 178 (2). pp. 335-349. ISSN 0007-0963, 1365-2133
Full text not available from this repository. (Request a copy)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 easily accessible organ, the skin can be crucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality. We provide a table that enables the reader to find the possible diseases and corresponding gene defects based on the skin manifestations of the suspected PIDs. To our knowledge, this is the first review that allows the reader to find relevant PIDs and the respective gene defects through solitary or combined skin signs. What's already known about this topic? Primary immunodeficiencies (PIDs) comprise more than 300 distinct entities. About half of these PIDs have skin signs. What does this study add? This review provides the reader with a framework on when and how to check for specific PIDs based on solitary or combined cutaneous signs. Plain language summary available online
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GRISCELLI-SYNDROME TYPE-2; UPDATE; MANIFESTATIONS; DEFICIENCY; CLASSIFICATION; MUTATIONS; DISEASES; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde |
| Depositing User: | Petra Gürster |
| Date Deposited: | 25 Jun 2020 10:03 |
| Last Modified: | 25 Jun 2020 10:03 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15066 |
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