Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
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DOI：
10.3389/fimmu.2014.00162
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发表时间：
2014
影响因子：
7.3
通讯作者：
Tang ML
中科院分区：
文献类型：
--
作者：
Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Conley ME;Cunningham-Rundles C;Etzioni A;Franco JL;Gaspar HB;Holland SM;Klein C;Nonoyama S;Ochs HD;Oksenhendler E;Picard C;Puck JM;Sullivan K;Tang ML
我们报告由国际免疫学会联盟专家委员会编制的最新的初级免疫缺陷分类。与之前的版本相比，更新版本中报告了30多个新的基因缺陷。此外，我们还添加了一个获得性缺陷表，这些缺陷是PID的表观复制。对于每种疾病，提供了关键的临床和实验室特征。这一分类是所有已知的ID的最新目录，并作为这些疾病知识的当前参考，对这些罕见疾病的患者的分子诊断是重要的辅助。
We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.