A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside
A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside
复制标题
DOI：
10.1007/s10875-013-9901-6
复制
发表时间：
2013-08-01
影响因子：
9.1
通讯作者：
Casanova, Jean-Laurent
中科院分区：
文献类型：
--
作者：
Aziz Bousfiha, Ahmed;Jeddane, Leila;Casanova, Jean-Laurent
基因定义的原发性免疫缺陷病 (PID) 的数量呈指数级增长，尤其是在过去十年中。因此，IUIS PID 专家委员会每两年发布一次的分类正在迅速扩大，提供有关 PID 的致病基因型、免疫异常和相关临床特征的宝贵信息。这些免疫功能障碍分为八类，有些重叠。然而，基于这种免疫学分类，通过临床医生对个体临床和/或免疫学表型的观察来诊断特定的 PID 仍然很困难，特别是对于非 PID 专家而言。这项工作的目的是提出一种表型分类，该分类构成诊断树的基础，引导医生从临床特征开始并结合常规免疫学研究来确定特定的 PID 组。我们提供了 8 个彩色诊断图，对应于 IUIS 分类中的 8 个 PID 组，包括 2011 年 IUIS 分类更新中引用的所有 PID 以及此后报告的大部分。
The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician's observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way. We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since.