Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.
Department of Otorhinolaryngology, University Medical Center Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.
Br J Dermatol. 2018 Feb;178(2):335-349. doi: 10.1111/bjd.15870. Epub 2018 Jan 2.
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.
原发性免疫缺陷病（PID）是一组罕见疾病，其源于免疫系统的发育和/或功能缺陷。PID 的临床表现具有高度异质性，但大多数疾病都至少存在易感性增加的感染。此外，PID 还常伴有皮肤表现。作为一个易于触及的器官，皮肤对于早期诊断和治疗至关重要。这对于预防与疾病相关的发病率和死亡率具有重要意义。我们提供了一个表格，读者可以根据疑似 PID 的皮肤表现，找到可能的疾病和相应的基因缺陷。据我们所知，这是第一篇通过单一或联合皮肤表现来查找相关 PID 和相应基因缺陷的综述。
